Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv2671261

Organism: Homo sapiens

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

Variant Calls:6
Validation:Yes
Clinical Assertions: No
Region Size:50,336

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: 591 SVs from 83 studies. See in: genome view

Remapped(Score: Perfect):37,496,258-37,546,593

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2671261	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	37,496,258	37,546,593
esv2671261	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	38,070,395	38,120,730

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5576815	deletion	SAMN00000565	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,221
essv5730335	deletion	SAMN00007742	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,283
essv5971303	deletion	SAMN00001577	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,401
essv6215540	deletion	SAMN00007700	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,460
essv6276163	deletion	SAMN00007737	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,715
essv6342920	deletion	SAMN00001193	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,179

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5576815	Remapped	Perfect	NC_000013.11:g.374 96258_37546593delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	37,496,258	37,546,593
essv5730335	Remapped	Perfect	NC_000013.11:g.374 96258_37546593delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	37,496,258	37,546,593
essv5971303	Remapped	Perfect	NC_000013.11:g.374 96258_37546593delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	37,496,258	37,546,593
essv6215540	Remapped	Perfect	NC_000013.11:g.374 96258_37546593delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	37,496,258	37,546,593
essv6276163	Remapped	Perfect	NC_000013.11:g.374 96258_37546593delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	37,496,258	37,546,593
essv6342920	Remapped	Perfect	NC_000013.11:g.374 96258_37546593delT	GRCh38.p12	First Pass	NC_000013.11	Chr13	37,496,258	37,546,593
essv5576815	Submitted genomic		NC_000013.10:g.380 70395_38120730delT	GRCh37 (hg19)		NC_000013.10	Chr13	38,070,395	38,120,730
essv5730335	Submitted genomic		NC_000013.10:g.380 70395_38120730delT	GRCh37 (hg19)		NC_000013.10	Chr13	38,070,395	38,120,730
essv5971303	Submitted genomic		NC_000013.10:g.380 70395_38120730delT	GRCh37 (hg19)		NC_000013.10	Chr13	38,070,395	38,120,730
essv6215540	Submitted genomic		NC_000013.10:g.380 70395_38120730delT	GRCh37 (hg19)		NC_000013.10	Chr13	38,070,395	38,120,730
essv6276163	Submitted genomic		NC_000013.10:g.380 70395_38120730delT	GRCh37 (hg19)		NC_000013.10	Chr13	38,070,395	38,120,730
essv6342920	Submitted genomic		NC_000013.10:g.380 70395_38120730delT	GRCh37 (hg19)		NC_000013.10	Chr13	38,070,395	38,120,730

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5576815	7	SAMN00000565	SNP array	Probe signal intensity	Pass
essv6342920	7	SAMN00001193	SNP array	Probe signal intensity	Pass
essv5971303	7	SAMN00001577	SNP array	Probe signal intensity	Pass
essv6215540	7	SAMN00007700	SNP array	Probe signal intensity	Pass
essv6276163	7	SAMN00007737	SNP array	Probe signal intensity	Pass
essv5730335	7	SAMN00007742	SNP array	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

You are here: NCBI