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dbVar

Database of genomic structural variation

esv2657801

Organism: Homo sapiens

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

Variant Calls:5
Validation:Yes
Clinical Assertions: No
Region Size:13,562

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: 185 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):208,368,937-208,382,498

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2657801	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	208,368,937	208,382,498
esv2657801	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	209,233,662	209,247,223

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5495001	deletion	SAMN00001586	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,356
essv5854691	deletion	SAMN00001581	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,469
essv5977663	deletion	SAMN00000568	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,629
essv6295595	deletion	SAMN00000571	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,271
essv6549078	deletion	SAMN00009146	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,904

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5495001	Remapped	Perfect	NC_000002.12:g.208 368937_208382498de lA	GRCh38.p12	First Pass	NC_000002.12	Chr2	208,368,937	208,382,498
essv5854691	Remapped	Perfect	NC_000002.12:g.208 368937_208382498de lA	GRCh38.p12	First Pass	NC_000002.12	Chr2	208,368,937	208,382,498
essv5977663	Remapped	Perfect	NC_000002.12:g.208 368937_208382498de lA	GRCh38.p12	First Pass	NC_000002.12	Chr2	208,368,937	208,382,498
essv6295595	Remapped	Perfect	NC_000002.12:g.208 368937_208382498de lA	GRCh38.p12	First Pass	NC_000002.12	Chr2	208,368,937	208,382,498
essv6549078	Remapped	Perfect	NC_000002.12:g.208 368937_208382498de lA	GRCh38.p12	First Pass	NC_000002.12	Chr2	208,368,937	208,382,498
essv5495001	Submitted genomic		NC_000002.11:g.209 233662_209247223de lA	GRCh37 (hg19)		NC_000002.11	Chr2	209,233,662	209,247,223
essv5854691	Submitted genomic		NC_000002.11:g.209 233662_209247223de lA	GRCh37 (hg19)		NC_000002.11	Chr2	209,233,662	209,247,223
essv5977663	Submitted genomic		NC_000002.11:g.209 233662_209247223de lA	GRCh37 (hg19)		NC_000002.11	Chr2	209,233,662	209,247,223
essv6295595	Submitted genomic		NC_000002.11:g.209 233662_209247223de lA	GRCh37 (hg19)		NC_000002.11	Chr2	209,233,662	209,247,223
essv6549078	Submitted genomic		NC_000002.11:g.209 233662_209247223de lA	GRCh37 (hg19)		NC_000002.11	Chr2	209,233,662	209,247,223

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5977663	7	SAMN00000568	SNP array	Probe signal intensity	Pass
essv6295595	7	SAMN00000571	SNP array	Probe signal intensity	Pass
essv5854691	7	SAMN00001581	SNP array	Probe signal intensity	Pass
essv5495001	7	SAMN00001586	SNP array	Probe signal intensity	Pass
essv6549078	7	SAMN00009146	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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