U.S. flag

An official website of the United States government

esv2757162

  • Variant Calls:6
  • Validation:Not tested
  • Clinical Assertions: No
  • Region Size:189,117

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 1788 SVs from 105 studies. See in: genome view    
Remapped(Score: Perfect):31,385,552-31,574,531Question Mark
Overlapping variant regions from other studies: 31 SVs from 11 studies. See in: genome view    
Remapped(Score: Pass):2,806,320-2,916,429Question Mark
Overlapping variant regions from other studies: 102 SVs from 12 studies. See in: genome view    
Remapped(Score: Good):2,641,234-2,830,350Question Mark
Overlapping variant regions from other studies: 491 SVs from 37 studies. See in: genome view    
Remapped(Score: Good):2,687,816-2,873,811Question Mark
Overlapping variant regions from other studies: 205 SVs from 27 studies. See in: genome view    
Remapped(Score: Good):2,694,160-2,879,572Question Mark
Overlapping variant regions from other studies: 135 SVs from 20 studies. See in: genome view    
Remapped(Score: Pass):2,718,032-2,822,264Question Mark
Overlapping variant regions from other studies: 112 SVs from 13 studies. See in: genome view    
Remapped(Score: Good):2,865,901-3,051,818Question Mark
Overlapping variant regions from other studies: 1788 SVs from 105 studies. See in: genome view    
Remapped(Score: Perfect):31,353,329-31,542,308Question Mark
Overlapping variant regions from other studies: 112 SVs from 13 studies. See in: genome view    
Remapped(Score: Good):2,866,007-3,051,924Question Mark
Overlapping variant regions from other studies: 135 SVs from 20 studies. See in: genome view    
Remapped(Score: Pass):2,723,694-2,827,849Question Mark
Overlapping variant regions from other studies: 31 SVs from 11 studies. See in: genome view    
Remapped(Score: Pass):2,811,905-2,922,014Question Mark
Overlapping variant regions from other studies: 102 SVs from 12 studies. See in: genome view    
Remapped(Score: Good):2,646,830-2,835,946Question Mark
Overlapping variant regions from other studies: 491 SVs from 37 studies. See in: genome view    
Remapped(Score: Good):2,687,114-2,873,109Question Mark
Overlapping variant regions from other studies: 337 SVs from 32 studies. See in: genome view    
Remapped(Score: Good):2,699,780-2,885,192Question Mark
Overlapping variant regions from other studies: 115 SVs from 12 studies. See in: genome view    
Submitted genomic31,461,308-31,650,287Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
esv2757162RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr631,385,55231,574,531
esv2757162RemappedPassGRCh38.p12ALT_REF_LOCI_5Second PassNT_167247.2Chr6|NT_16
7247.2
2,806,3202,916,429
esv2757162RemappedGoodGRCh38.p12ALT_REF_LOCI_6Second PassNT_167248.2Chr6|NT_16
7248.2
2,641,2342,830,350
esv2757162RemappedGoodGRCh38.p12ALT_REF_LOCI_7Second PassNT_167249.2Chr6|NT_16
7249.2
2,687,8162,873,811
esv2757162RemappedGoodGRCh38.p12ALT_REF_LOCI_4Second PassNT_167246.2Chr6|NT_16
7246.2
2,694,1602,879,572
esv2757162RemappedPassGRCh38.p12ALT_REF_LOCI_3Second PassNT_167245.2Chr6|NT_16
7245.2
2,718,0322,822,264
esv2757162RemappedGoodGRCh38.p12ALT_REF_LOCI_2Second PassNT_113891.3Chr6|NT_11
3891.3
2,865,9013,051,818
esv2757162RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000006.11Chr631,353,32931,542,308
esv2757162RemappedGoodGRCh37.p13ALT_REF_LOCI_2Second PassNT_113891.2Chr6|NT_11
3891.2
2,866,0073,051,924
esv2757162RemappedPassGRCh37.p13ALT_REF_LOCI_3Second PassNT_167245.1Chr6|NT_16
7245.1
2,723,6942,827,849
esv2757162RemappedPassGRCh37.p13ALT_REF_LOCI_5Second PassNT_167247.1Chr6|NT_16
7247.1
2,811,9052,922,014
esv2757162RemappedGoodGRCh37.p13ALT_REF_LOCI_6Second PassNT_167248.1Chr6|NT_16
7248.1
2,646,8302,835,946
esv2757162RemappedGoodGRCh37.p13ALT_REF_LOCI_7Second PassNT_167249.1Chr6|NT_16
7249.1
2,687,1142,873,109
esv2757162RemappedGoodGRCh37.p13ALT_REF_LOCI_4Second PassNT_167246.1Chr6|NT_16
7246.1
2,699,7802,885,192
esv2757162Submitted genomicNCBI35 (hg17)Primary AssemblyNC_000006.9Chr631,461,30831,650,287

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisOther Calls in this Sample and Study
essv13301copy number lossNA19202SNP arraySNP genotyping analysis129
essv13266copy number lossNA19201SNP arraySNP genotyping analysis100
essv7685copy number lossNA18620SNP arraySNP genotyping analysis114
essv3592copy number lossNA18969SNP arraySNP genotyping analysis96
essv6210copy number lossNA18563SNP arraySNP genotyping analysis139
essv6851copy number lossNA18558SNP arraySNP genotyping analysis105

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
essv13301RemappedGoodNT_167248.2:g.(264
1234_2641234)_(274
5685_2745685)del
GRCh38.p12Second PassNT_167248.2Chr6|NT_16
7248.2
2,641,2342,641,2342,745,6852,745,685
essv13266RemappedGoodNT_167248.2:g.(264
1234_2641234)_(283
0350_2830350)del
GRCh38.p12Second PassNT_167248.2Chr6|NT_16
7248.2
2,641,2342,641,2342,830,3502,830,350
essv7685RemappedGoodNT_167248.2:g.(264
1594_2641594)_(274
8247_2748247)del
GRCh38.p12Second PassNT_167248.2Chr6|NT_16
7248.2
2,641,5942,641,5942,748,2472,748,247
essv3592RemappedGoodNT_167248.2:g.(264
6784_2646784)_(274
8324_2748324)del
GRCh38.p12Second PassNT_167248.2Chr6|NT_16
7248.2
2,646,7842,646,7842,748,3242,748,324
essv6210RemappedGoodNT_167248.2:g.(264
6784_2646784)_(274
8324_2748324)del
GRCh38.p12Second PassNT_167248.2Chr6|NT_16
7248.2
2,646,7842,646,7842,748,3242,748,324
essv6851RemappedGoodNT_167248.2:g.(264
6784_2646784)_(274
8324_2748324)del
GRCh38.p12Second PassNT_167248.2Chr6|NT_16
7248.2
2,646,7842,646,7842,748,3242,748,324
essv13301RemappedGoodNT_167249.2:g.(268
7816_2687816)_(278
9088_2789088)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,687,8162,687,8162,789,0882,789,088
essv13266RemappedGoodNT_167249.2:g.(268
7816_2687816)_(287
3811_2873811)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,687,8162,687,8162,873,8112,873,811
essv7685RemappedGoodNT_167249.2:g.(268
8176_2688176)_(279
1643_2791643)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,688,1762,688,1762,791,6432,791,643
essv3592RemappedGoodNT_167249.2:g.(269
3432_2693432)_(279
1720_2791720)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,693,4322,693,4322,791,7202,791,720
essv6210RemappedGoodNT_167249.2:g.(269
3432_2693432)_(279
1720_2791720)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,693,4322,693,4322,791,7202,791,720
essv6851RemappedGoodNT_167249.2:g.(269
3432_2693432)_(279
1720_2791720)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,693,4322,693,4322,791,7202,791,720
essv13301RemappedPassNT_167246.2:g.(269
4160_2694160)_(276
6386_?)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,694,1602,694,1602,766,386-
essv13266RemappedGoodNT_167246.2:g.(269
4160_2694160)_(287
9572_2879572)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,694,1602,694,1602,879,5722,879,572
essv7685RemappedPassNT_167246.2:g.(269
4520_2694520)_(276
6386_?)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,694,5202,694,5202,766,386-
essv3592RemappedPassNT_167246.2:g.(269
9770_2699770)_(276
6386_?)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,699,7702,699,7702,766,386-
essv6210RemappedPassNT_167246.2:g.(269
9770_2699770)_(276
6386_?)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,699,7702,699,7702,766,386-
essv6851RemappedPassNT_167246.2:g.(269
9770_2699770)_(276
6386_?)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,699,7702,699,7702,766,386-
essv13266RemappedPassNT_167247.2:g.(?_2
806320)_(2916429_2
916429)del
GRCh38.p12Second PassNT_167247.2Chr6|NT_16
7247.2
-2,806,3202,916,4292,916,429
essv13266RemappedPassNT_167245.2:g.(?_2
718032)_(2822264_2
822264)del
GRCh38.p12Second PassNT_167245.2Chr6|NT_16
7245.2
-2,718,0322,822,2642,822,264
essv13301RemappedGoodNT_113891.3:g.(286
5901_2865901)_(296
7164_2967164)del
GRCh38.p12Second PassNT_113891.3Chr6|NT_11
3891.3
2,865,9012,865,9012,967,1642,967,164
essv13266RemappedGoodNT_113891.3:g.(286
5901_2865901)_(305
1818_3051818)del
GRCh38.p12Second PassNT_113891.3Chr6|NT_11
3891.3
2,865,9012,865,9013,051,8183,051,818
essv7685RemappedGoodNT_113891.3:g.(286
6261_2866261)_(296
9707_2969707)del
GRCh38.p12Second PassNT_113891.3Chr6|NT_11
3891.3
2,866,2612,866,2612,969,7072,969,707
essv3592RemappedGoodNT_113891.3:g.(287
1517_2871517)_(296
9784_2969784)del
GRCh38.p12Second PassNT_113891.3Chr6|NT_11
3891.3
2,871,5172,871,5172,969,7842,969,784
essv6210RemappedGoodNT_113891.3:g.(287
1517_2871517)_(296
9784_2969784)del
GRCh38.p12Second PassNT_113891.3Chr6|NT_11
3891.3
2,871,5172,871,5172,969,7842,969,784
essv6851RemappedGoodNT_113891.3:g.(287
1517_2871517)_(296
9784_2969784)del
GRCh38.p12Second PassNT_113891.3Chr6|NT_11
3891.3
2,871,5172,871,5172,969,7842,969,784
essv13266RemappedPerfectNC_000006.12:g.(31
385552_31412154)_(
31483699_31574531)
del
GRCh38.p12First PassNC_000006.12Chr631,385,55231,412,15431,483,69931,574,531
essv13301RemappedPerfectNC_000006.12:g.(31
385552_31412154)_(
31483699_31489801)
del
GRCh38.p12First PassNC_000006.12Chr631,385,55231,412,15431,483,69931,489,801
essv7685RemappedPerfectNC_000006.12:g.(31
385912_31420500)_(
31483699_31492366)
del
GRCh38.p12First PassNC_000006.12Chr631,385,91231,420,50031,483,69931,492,366
essv6851RemappedPerfectNC_000006.12:g.(31
391166_31392318)_(
31481550_31492443)
del
GRCh38.p12First PassNC_000006.12Chr631,391,16631,392,31831,481,55031,492,443
essv3592RemappedPerfectNC_000006.12:g.(31
391166_31392318)_(
31483699_31492443)
del
GRCh38.p12First PassNC_000006.12Chr631,391,16631,392,31831,483,69931,492,443
essv6210RemappedPerfectNC_000006.12:g.(31
391166_31392318)_(
31489801_31492443)
del
GRCh38.p12First PassNC_000006.12Chr631,391,16631,392,31831,489,80131,492,443
essv13301RemappedGoodNT_167248.1:g.(264
6830_2646830)_(275
1281_2751281)delNT
_167248.1:g.(26468
30_2646830)_(27512
81_2751281)del
GRCh37.p13Second PassNT_167248.1Chr6|NT_16
7248.1
2,646,8302,646,8302,751,2812,751,281
essv13266RemappedGoodNT_167248.1:g.(264
6830_2646830)_(283
5946_2835946)delNT
_167248.1:g.(26468
30_2646830)_(28359
46_2835946)del
GRCh37.p13Second PassNT_167248.1Chr6|NT_16
7248.1
2,646,8302,646,8302,835,9462,835,946
essv7685RemappedGoodNT_167248.1:g.(264
7190_2647190)_(275
3843_2753843)delNT
_167248.1:g.(26471
90_2647190)_(27538
43_2753843)del
GRCh37.p13Second PassNT_167248.1Chr6|NT_16
7248.1
2,647,1902,647,1902,753,8432,753,843
essv3592RemappedGoodNT_167248.1:g.(265
2380_2652380)_(275
3920_2753920)delNT
_167248.1:g.(26523
80_2652380)_(27539
20_2753920)del
GRCh37.p13Second PassNT_167248.1Chr6|NT_16
7248.1
2,652,3802,652,3802,753,9202,753,920
essv6210RemappedGoodNT_167248.1:g.(265
2380_2652380)_(275
3920_2753920)delNT
_167248.1:g.(26523
80_2652380)_(27539
20_2753920)del
GRCh37.p13Second PassNT_167248.1Chr6|NT_16
7248.1
2,652,3802,652,3802,753,9202,753,920
essv6851RemappedGoodNT_167248.1:g.(265
2380_2652380)_(275
3920_2753920)delNT
_167248.1:g.(26523
80_2652380)_(27539
20_2753920)del
GRCh37.p13Second PassNT_167248.1Chr6|NT_16
7248.1
2,652,3802,652,3802,753,9202,753,920
essv13301RemappedGoodNT_167249.1:g.(268
7114_2687114)_(278
8386_2788386)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,687,1142,687,1142,788,3862,788,386
essv13266RemappedGoodNT_167249.1:g.(268
7114_2687114)_(287
3109_2873109)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,687,1142,687,1142,873,1092,873,109
essv7685RemappedGoodNT_167249.1:g.(268
7474_2687474)_(279
0941_2790941)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,687,4742,687,4742,790,9412,790,941
essv3592RemappedGoodNT_167249.1:g.(269
2730_2692730)_(279
1018_2791018)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,692,7302,692,7302,791,0182,791,018
essv6210RemappedGoodNT_167249.1:g.(269
2730_2692730)_(279
1018_2791018)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,692,7302,692,7302,791,0182,791,018
essv6851RemappedGoodNT_167249.1:g.(269
2730_2692730)_(279
1018_2791018)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,692,7302,692,7302,791,0182,791,018
essv13301RemappedPassNT_167246.1:g.(269
9780_2699780)_(277
2006_?)delNT_16724
6.1:g.(2699780_269
9780)_(2772006_?)d
el
GRCh37.p13Second PassNT_167246.1Chr6|NT_16
7246.1
2,699,7802,699,7802,772,006-
essv13266RemappedGoodNT_167246.1:g.(269
9780_2699780)_(288
5192_2885192)delNT
_167246.1:g.(26997
80_2699780)_(28851
92_2885192)del
GRCh37.p13Second PassNT_167246.1Chr6|NT_16
7246.1
2,699,7802,699,7802,885,1922,885,192
essv7685RemappedPassNT_167246.1:g.(270
0140_2700140)_(277
2006_?)delNT_16724
6.1:g.(2700140_270
0140)_(2772006_?)d
el
GRCh37.p13Second PassNT_167246.1Chr6|NT_16
7246.1
2,700,1402,700,1402,772,006-
essv3592RemappedPassNT_167246.1:g.(270
5390_2705390)_(277
2006_?)delNT_16724
6.1:g.(2705390_270
5390)_(2772006_?)d
el
GRCh37.p13Second PassNT_167246.1Chr6|NT_16
7246.1
2,705,3902,705,3902,772,006-
essv6210RemappedPassNT_167246.1:g.(270
5390_2705390)_(277
2006_?)delNT_16724
6.1:g.(2705390_270
5390)_(2772006_?)d
el
GRCh37.p13Second PassNT_167246.1Chr6|NT_16
7246.1
2,705,3902,705,3902,772,006-
essv6851RemappedPassNT_167246.1:g.(270
5390_2705390)_(277
2006_?)delNT_16724
6.1:g.(2705390_270
5390)_(2772006_?)d
el
GRCh37.p13Second PassNT_167246.1Chr6|NT_16
7246.1
2,705,3902,705,3902,772,006-
essv13266RemappedPassNT_167245.1:g.(?_2
723694)_(2827849_2
827849)delNT_16724
5.1:g.(?_2723694)_
(2827849_2827849)d
el
GRCh37.p13Second PassNT_167245.1Chr6|NT_16
7245.1
-2,723,6942,827,8492,827,849
essv13266RemappedPassNT_167247.1:g.(?_2
811905)_(2922014_2
922014)delNT_16724
7.1:g.(?_2811905)_
(2922014_2922014)d
el
GRCh37.p13Second PassNT_167247.1Chr6|NT_16
7247.1
-2,811,9052,922,0142,922,014
essv13301RemappedGoodNT_113891.2:g.(286
6007_2866007)_(296
7270_2967270)del
GRCh37.p13Second PassNT_113891.2Chr6|NT_11
3891.2
2,866,0072,866,0072,967,2702,967,270
essv13266RemappedGoodNT_113891.2:g.(286
6007_2866007)_(305
1924_3051924)del
GRCh37.p13Second PassNT_113891.2Chr6|NT_11
3891.2
2,866,0072,866,0073,051,9243,051,924
essv7685RemappedGoodNT_113891.2:g.(286
6367_2866367)_(296
9813_2969813)del
GRCh37.p13Second PassNT_113891.2Chr6|NT_11
3891.2
2,866,3672,866,3672,969,8132,969,813
essv3592RemappedGoodNT_113891.2:g.(287
1623_2871623)_(296
9890_2969890)del
GRCh37.p13Second PassNT_113891.2Chr6|NT_11
3891.2
2,871,6232,871,6232,969,8902,969,890
essv6210RemappedGoodNT_113891.2:g.(287
1623_2871623)_(296
9890_2969890)del
GRCh37.p13Second PassNT_113891.2Chr6|NT_11
3891.2
2,871,6232,871,6232,969,8902,969,890
essv6851RemappedGoodNT_113891.2:g.(287
1623_2871623)_(296
9890_2969890)del
GRCh37.p13Second PassNT_113891.2Chr6|NT_11
3891.2
2,871,6232,871,6232,969,8902,969,890
essv13266RemappedPerfectNC_000006.11:g.(31
353329_31379931)_(
31451476_31542308)
del
GRCh37.p13First PassNC_000006.11Chr631,353,32931,379,93131,451,47631,542,308
essv13301RemappedPerfectNC_000006.11:g.(31
353329_31379931)_(
31451476_31457578)
del
GRCh37.p13First PassNC_000006.11Chr631,353,32931,379,93131,451,47631,457,578
essv7685RemappedPerfectNC_000006.11:g.(31
353689_31388277)_(
31451476_31460143)
del
GRCh37.p13First PassNC_000006.11Chr631,353,68931,388,27731,451,47631,460,143
essv6851RemappedPerfectNC_000006.11:g.(31
358943_31360095)_(
31449327_31460220)
del
GRCh37.p13First PassNC_000006.11Chr631,358,94331,360,09531,449,32731,460,220
essv3592RemappedPerfectNC_000006.11:g.(31
358943_31360095)_(
31451476_31460220)
del
GRCh37.p13First PassNC_000006.11Chr631,358,94331,360,09531,451,47631,460,220
essv6210RemappedPerfectNC_000006.11:g.(31
358943_31360095)_(
31457578_31460220)
del
GRCh37.p13First PassNC_000006.11Chr631,358,94331,360,09531,457,57831,460,220
essv13266Submitted genomicNC_000006.9:g.(314
61308_31487910)_(3
1559455_31650287)d
el
NCBI35 (hg17)NC_000006.9Chr631,461,30831,487,91031,559,45531,650,287
essv13301Submitted genomicNC_000006.9:g.(314
61308_31487910)_(3
1559455_31565557)d
el
NCBI35 (hg17)NC_000006.9Chr631,461,30831,487,91031,559,45531,565,557
essv7685Submitted genomicNC_000006.9:g.(314
61668_31496256)_(3
1559455_31568122)d
el
NCBI35 (hg17)NC_000006.9Chr631,461,66831,496,25631,559,45531,568,122
essv6851Submitted genomicNC_000006.9:g.(314
66922_31468074)_(3
1557306_31568199)d
el
NCBI35 (hg17)NC_000006.9Chr631,466,92231,468,07431,557,30631,568,199
essv3592Submitted genomicNC_000006.9:g.(314
66922_31468074)_(3
1559455_31568199)d
el
NCBI35 (hg17)NC_000006.9Chr631,466,92231,468,07431,559,45531,568,199
essv6210Submitted genomicNC_000006.9:g.(314
66922_31468074)_(3
1565557_31568199)d
el
NCBI35 (hg17)NC_000006.9Chr631,466,92231,468,07431,565,55731,568,199

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

Support Center