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dbVar

Database of genomic structural variation

esv2657053

Organism: Homo sapiens

Study:estd199 (1000 Genomes Consortium Phase 1)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:4
Validation:Yes
Clinical Assertions: No
Region Size:8,304

Description:High quality site
Publication(s):1000 Genomes Project Consortium et al. 2012

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: 308 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):130,881,463-130,889,766

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
esv2657053	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	130,881,463	130,881,500	130,889,716	130,889,766
esv2657053	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	131,639,036	131,639,073	131,647,289	131,647,339

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5788923	deletion	SAMN00007862	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	973
essv6238140	deletion	SAMN00001693	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,362
essv6371922	deletion	SAMN00001147	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,637
essv6447532	deletion	SAMN00001582	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,248

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5788923	Remapped	Perfect	NC_000002.12:g.(13 0881463_130881500) _(130889716_130889 766)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	130,881,463	130,881,500	130,889,716	130,889,766
essv6238140	Remapped	Perfect	NC_000002.12:g.(13 0881463_130881500) _(130889716_130889 766)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	130,881,463	130,881,500	130,889,716	130,889,766
essv6371922	Remapped	Perfect	NC_000002.12:g.(13 0881463_130881500) _(130889716_130889 766)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	130,881,463	130,881,500	130,889,716	130,889,766
essv6447532	Remapped	Perfect	NC_000002.12:g.(13 0881463_130881500) _(130889716_130889 766)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	130,881,463	130,881,500	130,889,716	130,889,766
essv5788923	Submitted genomic		NC_000002.11:g.(13 1639036_131639073) _(131647289_131647 339)del	GRCh37 (hg19)		NC_000002.11	Chr2	131,639,036	131,639,073	131,647,289	131,647,339
essv6238140	Submitted genomic		NC_000002.11:g.(13 1639036_131639073) _(131647289_131647 339)del	GRCh37 (hg19)		NC_000002.11	Chr2	131,639,036	131,639,073	131,647,289	131,647,339
essv6371922	Submitted genomic		NC_000002.11:g.(13 1639036_131639073) _(131647289_131647 339)del	GRCh37 (hg19)		NC_000002.11	Chr2	131,639,036	131,639,073	131,647,289	131,647,339
essv6447532	Submitted genomic		NC_000002.11:g.(13 1639036_131639073) _(131647289_131647 339)del	GRCh37 (hg19)		NC_000002.11	Chr2	131,639,036	131,639,073	131,647,289	131,647,339

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6371922	7	SAMN00001147	SNP array	Probe signal intensity	Pass
essv6447532	7	SAMN00001582	SNP array	Probe signal intensity	Pass
essv6238140	7	SAMN00001693	SNP array	Probe signal intensity	Pass
essv5788923	7	SAMN00007862	SNP array	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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