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dbVar

Database of genomic structural variation

esv2660251

Organism: Homo sapiens

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

Variant Calls:7
Validation:Yes
Clinical Assertions: No
Region Size:40,600

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

Remapped(Score: Perfect):101,831,056-101,871,655

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2660251	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	101,831,056	101,871,655
esv2660251	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	101,166,760	101,207,359

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5448338	deletion	SAMN00001583	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,451
essv5454313	deletion	SAMN00007735	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,353
essv5760357	deletion	SAMN00001160	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,151
essv5838435	deletion	SAMN00007740	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,557
essv5975374	deletion	SAMN00000478	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,349
essv6332609	deletion	SAMN00001132	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,614
essv6418986	deletion	SAMN00001581	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,469

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5448338	Remapped	Perfect	NC_000005.10:g.101 831056_101871655de lT	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,831,056	101,871,655
essv5454313	Remapped	Perfect	NC_000005.10:g.101 831056_101871655de lT	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,831,056	101,871,655
essv5760357	Remapped	Perfect	NC_000005.10:g.101 831056_101871655de lT	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,831,056	101,871,655
essv5838435	Remapped	Perfect	NC_000005.10:g.101 831056_101871655de lT	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,831,056	101,871,655
essv5975374	Remapped	Perfect	NC_000005.10:g.101 831056_101871655de lT	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,831,056	101,871,655
essv6332609	Remapped	Perfect	NC_000005.10:g.101 831056_101871655de lT	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,831,056	101,871,655
essv6418986	Remapped	Perfect	NC_000005.10:g.101 831056_101871655de lT	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,831,056	101,871,655
essv5448338	Submitted genomic		NC_000005.9:g.1011 66760_101207359del T	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,760	101,207,359
essv5454313	Submitted genomic		NC_000005.9:g.1011 66760_101207359del T	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,760	101,207,359
essv5760357	Submitted genomic		NC_000005.9:g.1011 66760_101207359del T	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,760	101,207,359
essv5838435	Submitted genomic		NC_000005.9:g.1011 66760_101207359del T	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,760	101,207,359
essv5975374	Submitted genomic		NC_000005.9:g.1011 66760_101207359del T	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,760	101,207,359
essv6332609	Submitted genomic		NC_000005.9:g.1011 66760_101207359del T	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,760	101,207,359
essv6418986	Submitted genomic		NC_000005.9:g.1011 66760_101207359del T	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,760	101,207,359

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5975374	7	SAMN00000478	SNP array	Probe signal intensity	Pass
essv6332609	7	SAMN00001132	SNP array	Probe signal intensity	Pass
essv5760357	7	SAMN00001160	SNP array	Probe signal intensity	Pass
essv6418986	7	SAMN00001581	SNP array	Probe signal intensity	Pass
essv5448338	7	SAMN00001583	SNP array	Probe signal intensity	Pass
essv5454313	7	SAMN00007735	SNP array	Probe signal intensity	Pass
essv5838435	7	SAMN00007740	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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