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dbVar

Database of genomic structural variation

esv2670516

Organism: Homo sapiens

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

Variant Calls:8
Validation:Yes
Clinical Assertions: No
Region Size:10,382

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: 142 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):27,096,192-27,106,573

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2670516	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	27,096,192	27,106,573
esv2670516	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	27,385,121	27,395,502

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5477238	deletion	SAMN00001584	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,421
essv5820506	deletion	SAMN00007847	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	823
essv5981243	deletion	SAMN00009146	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,904
essv6159055	deletion	SAMN00001583	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,451
essv6177827	deletion	SAMN00801650	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	903
essv6389706	deletion	SAMN00001164	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,515
essv6481959	deletion	SAMN00001591	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,475
essv6501190	deletion	SAMN00001576	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,882

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5477238	Remapped	Perfect	NC_000010.11:g.270 96192_27106573delG	GRCh38.p12	First Pass	NC_000010.11	Chr10	27,096,192	27,106,573
essv5820506	Remapped	Perfect	NC_000010.11:g.270 96192_27106573delG	GRCh38.p12	First Pass	NC_000010.11	Chr10	27,096,192	27,106,573
essv5981243	Remapped	Perfect	NC_000010.11:g.270 96192_27106573delG	GRCh38.p12	First Pass	NC_000010.11	Chr10	27,096,192	27,106,573
essv6159055	Remapped	Perfect	NC_000010.11:g.270 96192_27106573delG	GRCh38.p12	First Pass	NC_000010.11	Chr10	27,096,192	27,106,573
essv6177827	Remapped	Perfect	NC_000010.11:g.270 96192_27106573delG	GRCh38.p12	First Pass	NC_000010.11	Chr10	27,096,192	27,106,573
essv6389706	Remapped	Perfect	NC_000010.11:g.270 96192_27106573delG	GRCh38.p12	First Pass	NC_000010.11	Chr10	27,096,192	27,106,573
essv6481959	Remapped	Perfect	NC_000010.11:g.270 96192_27106573delG	GRCh38.p12	First Pass	NC_000010.11	Chr10	27,096,192	27,106,573
essv6501190	Remapped	Perfect	NC_000010.11:g.270 96192_27106573delG	GRCh38.p12	First Pass	NC_000010.11	Chr10	27,096,192	27,106,573
essv5477238	Submitted genomic		NC_000010.10:g.273 85121_27395502delG	GRCh37 (hg19)		NC_000010.10	Chr10	27,385,121	27,395,502
essv5820506	Submitted genomic		NC_000010.10:g.273 85121_27395502delG	GRCh37 (hg19)		NC_000010.10	Chr10	27,385,121	27,395,502
essv5981243	Submitted genomic		NC_000010.10:g.273 85121_27395502delG	GRCh37 (hg19)		NC_000010.10	Chr10	27,385,121	27,395,502
essv6159055	Submitted genomic		NC_000010.10:g.273 85121_27395502delG	GRCh37 (hg19)		NC_000010.10	Chr10	27,385,121	27,395,502
essv6177827	Submitted genomic		NC_000010.10:g.273 85121_27395502delG	GRCh37 (hg19)		NC_000010.10	Chr10	27,385,121	27,395,502
essv6389706	Submitted genomic		NC_000010.10:g.273 85121_27395502delG	GRCh37 (hg19)		NC_000010.10	Chr10	27,385,121	27,395,502
essv6481959	Submitted genomic		NC_000010.10:g.273 85121_27395502delG	GRCh37 (hg19)		NC_000010.10	Chr10	27,385,121	27,395,502
essv6501190	Submitted genomic		NC_000010.10:g.273 85121_27395502delG	GRCh37 (hg19)		NC_000010.10	Chr10	27,385,121	27,395,502

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6389706	7	SAMN00001164	SNP array	Probe signal intensity	Pass
essv6501190	7	SAMN00001576	SNP array	Probe signal intensity	Pass
essv6159055	7	SAMN00001583	SNP array	Probe signal intensity	Pass
essv5477238	7	SAMN00001584	SNP array	Probe signal intensity	Pass
essv6481959	7	SAMN00001591	SNP array	Probe signal intensity	Pass
essv5820506	7	SAMN00007847	SNP array	Probe signal intensity	Pass
essv5981243	7	SAMN00009146	SNP array	Probe signal intensity	Pass
essv6177827	7	SAMN00801650	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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