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dbVar

Database of genomic structural variation

esv2757160

Organism: Homo sapiens

Study:estd1 (Redon et al. 2006)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI35 (hg17)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:3,320

Publication(s):Redon et al. 2006

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 132 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):30,817,496-30,820,811

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2757160	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	30,817,496	30,820,811
esv2757160	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_6	Second Pass	NT_167248.2	Chr6\|NT_16 7248.2	2,072,598	2,075,917
esv2757160	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_7	Second Pass	NT_167249.2	Chr6\|NT_16 7249.2	2,118,201	2,121,520
esv2757160	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_4	Second Pass	NT_167246.2	Chr6\|NT_16 7246.2	2,127,738	2,131,057
esv2757160	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_3	Second Pass	NT_167245.2	Chr6\|NT_16 7245.2	2,073,755	2,077,074
esv2757160	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_113891.3	Chr6\|NT_11 3891.3	2,297,222	2,300,541
esv2757160	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	30,785,273	30,788,588
esv2757160	Remapped	Good	GRCh37.p13	ALT_REF_LOCI_2	Second Pass	NT_113891.2	Chr6\|NT_11 3891.2	2,297,328	2,300,647
esv2757160	Remapped	Good	GRCh37.p13	ALT_REF_LOCI_3	Second Pass	NT_167245.1	Chr6\|NT_16 7245.1	2,079,340	2,082,659
esv2757160	Remapped	Good	GRCh37.p13	ALT_REF_LOCI_6	Second Pass	NT_167248.1	Chr6\|NT_16 7248.1	2,078,194	2,081,513
esv2757160	Remapped	Good	GRCh37.p13	ALT_REF_LOCI_7	Second Pass	NT_167249.1	Chr6\|NT_16 7249.1	2,117,499	2,120,818
esv2757160	Remapped	Good	GRCh37.p13	ALT_REF_LOCI_4	Second Pass	NT_167246.1	Chr6\|NT_16 7246.1	2,133,358	2,136,677
esv2757160	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000006.9	Chr6	30,893,252	30,896,567

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv1810	copy number loss	NA18971	SNP array	SNP genotyping analysis	125

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv1810	Remapped	Good	NT_167248.2:g.(207 2598_2072598)_(207 5917_2075917)del	GRCh38.p12	Second Pass	NT_167248.2	Chr6\|NT_16 7248.2	2,072,598	2,072,598	2,075,917	2,075,917
essv1810	Remapped	Good	NT_167249.2:g.(211 8201_2118201)_(212 1520_2121520)del	GRCh38.p12	Second Pass	NT_167249.2	Chr6\|NT_16 7249.2	2,118,201	2,118,201	2,121,520	2,121,520
essv1810	Remapped	Good	NT_167246.2:g.(212 7738_2127738)_(213 1057_2131057)del	GRCh38.p12	Second Pass	NT_167246.2	Chr6\|NT_16 7246.2	2,127,738	2,127,738	2,131,057	2,131,057
essv1810	Remapped	Good	NT_167245.2:g.(207 3755_2073755)_(207 7074_2077074)del	GRCh38.p12	Second Pass	NT_167245.2	Chr6\|NT_16 7245.2	2,073,755	2,073,755	2,077,074	2,077,074
essv1810	Remapped	Good	NT_113891.3:g.(229 7222_2297222)_(230 0541_2300541)del	GRCh38.p12	Second Pass	NT_113891.3	Chr6\|NT_11 3891.3	2,297,222	2,297,222	2,300,541	2,300,541
essv1810	Remapped	Perfect	NC_000006.12:g.(30 817496_30817496)_( 30820811_30820811) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	30,817,496	30,817,496	30,820,811	30,820,811
essv1810	Remapped	Good	NT_167248.1:g.(207 8194_2078194)_(208 1513_2081513)delNT _167248.1:g.(20781 94_2078194)_(20815 13_2081513)del	GRCh37.p13	Second Pass	NT_167248.1	Chr6\|NT_16 7248.1	2,078,194	2,078,194	2,081,513	2,081,513
essv1810	Remapped	Good	NT_167245.1:g.(207 9340_2079340)_(208 2659_2082659)delNT _167245.1:g.(20793 40_2079340)_(20826 59_2082659)del	GRCh37.p13	Second Pass	NT_167245.1	Chr6\|NT_16 7245.1	2,079,340	2,079,340	2,082,659	2,082,659
essv1810	Remapped	Good	NT_167249.1:g.(211 7499_2117499)_(212 0818_2120818)del	GRCh37.p13	Second Pass	NT_167249.1	Chr6\|NT_16 7249.1	2,117,499	2,117,499	2,120,818	2,120,818
essv1810	Remapped	Good	NT_167246.1:g.(213 3358_2133358)_(213 6677_2136677)delNT _167246.1:g.(21333 58_2133358)_(21366 77_2136677)del	GRCh37.p13	Second Pass	NT_167246.1	Chr6\|NT_16 7246.1	2,133,358	2,133,358	2,136,677	2,136,677
essv1810	Remapped	Good	NT_113891.2:g.(229 7328_2297328)_(230 0647_2300647)del	GRCh37.p13	Second Pass	NT_113891.2	Chr6\|NT_11 3891.2	2,297,328	2,297,328	2,300,647	2,300,647
essv1810	Remapped	Perfect	NC_000006.11:g.(30 785273_30785273)_( 30788588_30788588) del	GRCh37.p13	First Pass	NC_000006.11	Chr6	30,785,273	30,785,273	30,788,588	30,788,588
essv1810	Submitted genomic		NC_000006.9:g.(308 93252_30893252)_(3 0896567_30896567)d el	NCBI35 (hg17)		NC_000006.9	Chr6	30,893,252	30,893,252	30,896,567	30,896,567

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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