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esv2758039

  • Variant Calls:2
  • Validation:Not tested
  • Clinical Assertions: No
  • Region Size:203,631

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 583 SVs from 63 studies. See in: genome view    
Remapped(Score: Perfect):29,501,324-29,704,888Question Mark
Overlapping variant regions from other studies: 34 SVs from 6 studies. See in: genome view    
Remapped(Score: Good):766,699-970,251Question Mark
Overlapping variant regions from other studies: 32 SVs from 6 studies. See in: genome view    
Remapped(Score: Good):766,790-970,387Question Mark
Overlapping variant regions from other studies: 26 SVs from 4 studies. See in: genome view    
Remapped(Score: Good):810,335-1,013,923Question Mark
Overlapping variant regions from other studies: 32 SVs from 6 studies. See in: genome view    
Remapped(Score: Good):766,449-970,001Question Mark
Overlapping variant regions from other studies: 32 SVs from 6 studies. See in: genome view    
Remapped(Score: Good):766,847-970,432Question Mark
Overlapping variant regions from other studies: 33 SVs from 6 studies. See in: genome view    
Remapped(Score: Good):987,776-1,191,406Question Mark
Overlapping variant regions from other studies: 23 SVs from 6 studies. See in: genome view    
Remapped(Score: Good):766,985-964,446Question Mark
Overlapping variant regions from other studies: 583 SVs from 63 studies. See in: genome view    
Remapped(Score: Perfect):29,469,101-29,672,665Question Mark
Overlapping variant regions from other studies: 33 SVs from 6 studies. See in: genome view    
Remapped(Score: Good):987,882-1,191,512Question Mark
Overlapping variant regions from other studies: 32 SVs from 6 studies. See in: genome view    
Remapped(Score: Good):772,432-976,017Question Mark
Overlapping variant regions from other studies: 34 SVs from 6 studies. See in: genome view    
Remapped(Score: Good):772,284-975,836Question Mark
Overlapping variant regions from other studies: 32 SVs from 6 studies. See in: genome view    
Remapped(Score: Good):772,386-975,983Question Mark
Overlapping variant regions from other studies: 26 SVs from 4 studies. See in: genome view    
Remapped(Score: Good):809,633-1,013,221Question Mark
Overlapping variant regions from other studies: 23 SVs from 6 studies. See in: genome view    
Remapped(Score: Good):772,579-970,040Question Mark
Overlapping variant regions from other studies: 32 SVs from 6 studies. See in: genome view    
Remapped(Score: Good):772,069-975,621Question Mark
Overlapping variant regions from other studies: 36 SVs from 6 studies. See in: genome view    
Submitted genomic29,577,080-29,780,644Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
esv2758039RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr629,501,32429,704,888
esv2758039RemappedGoodGRCh38.p12ALT_REF_LOCI_5Second PassNT_167247.2Chr6|NT_16
7247.2		766,699970,251
esv2758039RemappedGoodGRCh38.p12ALT_REF_LOCI_6Second PassNT_167248.2Chr6|NT_16
7248.2		766,790970,387
esv2758039RemappedGoodGRCh38.p12ALT_REF_LOCI_7Second PassNT_167249.2Chr6|NT_16
7249.2		810,3351,013,923
esv2758039RemappedGoodGRCh38.p12ALT_REF_LOCI_4Second PassNT_167246.2Chr6|NT_16
7246.2		766,449970,001
esv2758039RemappedGoodGRCh38.p12ALT_REF_LOCI_3Second PassNT_167245.2Chr6|NT_16
7245.2		766,847970,432
esv2758039RemappedGoodGRCh38.p12ALT_REF_LOCI_2Second PassNT_113891.3Chr6|NT_11
3891.3		987,7761,191,406
esv2758039RemappedGoodGRCh38.p12ALT_REF_LOCI_1Second PassNT_167244.2Chr6|NT_16
7244.2		766,985964,446
esv2758039RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000006.11Chr629,469,10129,672,665
esv2758039RemappedGoodGRCh37.p13ALT_REF_LOCI_2Second PassNT_113891.2Chr6|NT_11
3891.2		987,8821,191,512
esv2758039RemappedGoodGRCh37.p13ALT_REF_LOCI_3Second PassNT_167245.1Chr6|NT_16
7245.1		772,432976,017
esv2758039RemappedGoodGRCh37.p13ALT_REF_LOCI_5Second PassNT_167247.1Chr6|NT_16
7247.1		772,284975,836
esv2758039RemappedGoodGRCh37.p13ALT_REF_LOCI_6Second PassNT_167248.1Chr6|NT_16
7248.1		772,386975,983
esv2758039RemappedGoodGRCh37.p13ALT_REF_LOCI_7Second PassNT_167249.1Chr6|NT_16
7249.1		809,6331,013,221
esv2758039RemappedGoodGRCh37.p13ALT_REF_LOCI_1Second PassNT_167244.1Chr6|NT_16
7244.1		772,579970,040
esv2758039RemappedGoodGRCh37.p13ALT_REF_LOCI_4Second PassNT_167246.1Chr6|NT_16
7246.1		772,069975,621
esv2758039Submitted genomicNCBI35 (hg17)Primary AssemblyNC_000006.9Chr629,577,08029,780,644

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisOther Calls in this Sample and Study
essv10262copy number lossNA18506BAC aCGHProbe signal intensity121
essv18215copy number gainNA12057BAC aCGHProbe signal intensity104

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
essv10262RemappedGoodNT_167246.2:g.(?_7
66449)_(970001_?)d
el		GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2		766,449970,001
essv10262RemappedGoodNT_167247.2:g.(?_7
66699)_(970251_?)d
el		GRCh38.p12Second PassNT_167247.2Chr6|NT_16
7247.2		766,699970,251
essv10262RemappedGoodNT_167248.2:g.(?_7
66790)_(970387_?)d
el		GRCh38.p12Second PassNT_167248.2Chr6|NT_16
7248.2		766,790970,387
essv18215RemappedGoodNT_167246.2:g.(?_8
09001)_(902337_?)d
up		GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2		809,001902,337
essv18215RemappedGoodNT_167247.2:g.(?_8
09251)_(902603_?)d
up		GRCh38.p12Second PassNT_167247.2Chr6|NT_16
7247.2		809,251902,603
essv18215RemappedGoodNT_167248.2:g.(?_8
09341)_(902717_?)d
up		GRCh38.p12Second PassNT_167248.2Chr6|NT_16
7248.2		809,341902,717
essv10262RemappedGoodNT_167249.2:g.(?_8
10335)_(1013923_?)
del		GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2		810,3351,013,923
essv18215RemappedGoodNT_167249.2:g.(?_8
52885)_(946252_?)d
up		GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2		852,885946,252
essv10262RemappedGoodNT_167245.2:g.(?_7
66847)_(970432_?)d
el		GRCh38.p12Second PassNT_167245.2Chr6|NT_16
7245.2		766,847970,432
essv18215RemappedGoodNT_167245.2:g.(?_8
09396)_(902762_?)d
up		GRCh38.p12Second PassNT_167245.2Chr6|NT_16
7245.2		809,396902,762
essv10262RemappedGoodNT_167244.2:g.(?_7
66985)_(964446_?)d
el		GRCh38.p12Second PassNT_167244.2Chr6|NT_16
7244.2		766,985964,446
essv18215RemappedGoodNT_167244.2:g.(?_8
09537)_(902928_?)d
up		GRCh38.p12Second PassNT_167244.2Chr6|NT_16
7244.2		809,537902,928
essv10262RemappedGoodNT_113891.3:g.(?_9
87776)_(1191406_?)
del		GRCh38.p12Second PassNT_113891.3Chr6|NT_11
3891.3		987,7761,191,406
essv18215RemappedGoodNT_113891.3:g.(?_1
030332)_(1123691_?
)dup		GRCh38.p12Second PassNT_113891.3Chr6|NT_11
3891.3		1,030,3321,123,691
essv10262RemappedPerfectNC_000006.12:g.(?_
29501324)_(2970488
8_?)del		GRCh38.p12First PassNC_000006.12Chr629,501,32429,704,888
essv18215RemappedPerfectNC_000006.12:g.(?_
29543869)_(2963721
5_?)dup		GRCh38.p12First PassNC_000006.12Chr629,543,86929,637,215
essv10262RemappedGoodNT_167246.1:g.(?_7
72069)_(975621_?)d
elNT_167246.1:g.(?
_772069)_(975621_?
)del		GRCh37.p13Second PassNT_167246.1Chr6|NT_16
7246.1		772,069975,621
essv10262RemappedGoodNT_167247.1:g.(?_7
72284)_(975836_?)d
elNT_167247.1:g.(?
_772284)_(975836_?
)del		GRCh37.p13Second PassNT_167247.1Chr6|NT_16
7247.1		772,284975,836
essv10262RemappedGoodNT_167248.1:g.(?_7
72386)_(975983_?)d
elNT_167248.1:g.(?
_772386)_(975983_?
)del		GRCh37.p13Second PassNT_167248.1Chr6|NT_16
7248.1		772,386975,983
essv10262RemappedGoodNT_167245.1:g.(?_7
72432)_(976017_?)d
elNT_167245.1:g.(?
_772432)_(976017_?
)del		GRCh37.p13Second PassNT_167245.1Chr6|NT_16
7245.1		772,432976,017
essv10262RemappedGoodNT_167244.1:g.(?_7
72579)_(970040_?)d
el		GRCh37.p13Second PassNT_167244.1Chr6|NT_16
7244.1		772,579970,040
essv10262RemappedGoodNT_167249.1:g.(?_8
09633)_(1013221_?)
del		GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1		809,6331,013,221
essv18215RemappedGoodNT_167246.1:g.(?_8
14621)_(907957_?)d
upNT_167246.1:g.(?
_814621)_(907957_?
)dup		GRCh37.p13Second PassNT_167246.1Chr6|NT_16
7246.1		814,621907,957
essv18215RemappedGoodNT_167247.1:g.(?_8
14836)_(908188_?)d
upNT_167247.1:g.(?
_814836)_(908188_?
)dup		GRCh37.p13Second PassNT_167247.1Chr6|NT_16
7247.1		814,836908,188
essv18215RemappedGoodNT_167248.1:g.(?_8
14937)_(908313_?)d
upNT_167248.1:g.(?
_814937)_(908313_?
)dup		GRCh37.p13Second PassNT_167248.1Chr6|NT_16
7248.1		814,937908,313
essv18215RemappedGoodNT_167245.1:g.(?_8
14981)_(908347_?)d
upNT_167245.1:g.(?
_814981)_(908347_?
)dup		GRCh37.p13Second PassNT_167245.1Chr6|NT_16
7245.1		814,981908,347
essv18215RemappedGoodNT_167244.1:g.(?_8
15131)_(908522_?)d
up		GRCh37.p13Second PassNT_167244.1Chr6|NT_16
7244.1		815,131908,522
essv18215RemappedGoodNT_167249.1:g.(?_8
52183)_(945550_?)d
up		GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1		852,183945,550
essv10262RemappedGoodNT_113891.2:g.(?_9
87882)_(1191512_?)
del		GRCh37.p13Second PassNT_113891.2Chr6|NT_11
3891.2		987,8821,191,512
essv18215RemappedGoodNT_113891.2:g.(?_1
030438)_(1123797_?
)dup		GRCh37.p13Second PassNT_113891.2Chr6|NT_11
3891.2		1,030,4381,123,797
essv10262RemappedPerfectNC_000006.11:g.(?_
29469101)_(2967266
5_?)del		GRCh37.p13First PassNC_000006.11Chr629,469,10129,672,665
essv18215RemappedPerfectNC_000006.11:g.(?_
29511646)_(2960499
2_?)dup		GRCh37.p13First PassNC_000006.11Chr629,511,64629,604,992
essv10262Submitted genomicNC_000006.9:g.(?_2
9577080)_(29780644
_?)del		NCBI35 (hg17)NC_000006.9Chr629,577,08029,780,644
essv18215Submitted genomicNC_000006.9:g.(?_2
9619625)_(29712971
_?)dup		NCBI35 (hg17)NC_000006.9Chr629,619,62529,712,971

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

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