esv2678595

Organism: Homo sapiens

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

Variant Calls:23
Validation:Yes
Clinical Assertions: No
Region Size:4,889

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: 186 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):80,429,576-80,434,464

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2678595	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
esv2678595	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	80,823,356	80,828,244

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5397849	deletion	SAMN00000430	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,528
essv5440064	deletion	SAMN00000506	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,170
essv5470929	deletion	SAMN00006474	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,703
essv5487317	deletion	SAMN00007756	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,140
essv5559256	deletion	SAMN00001590	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,510
essv5611386	deletion	SAMN00006568	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,726
essv5638075	deletion	SAMN00000454	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,020
essv5654174	deletion	SAMN00007785	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,287
essv5704996	deletion	SAMN00001631	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,164
essv5720153	deletion	SAMN00006570	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,706
essv5816921	deletion	SAMN00006459	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,568
essv5825280	deletion	SAMN00001185	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,819
essv5841579	deletion	SAMN00001177	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,531
essv6174288	deletion	SAMN00001144	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,691
essv6210635	deletion	SAMN00006517	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,300
essv6291172	deletion	SAMN00007817	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,168
essv6309065	deletion	SAMN00000436	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,411
essv6323931	deletion	SAMN00000518	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,001
essv6402864	deletion	SAMN00006547	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,684
essv6457760	deletion	SAMN00006486	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,453
essv6482249	deletion	SAMN00014312	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,381
essv6505614	deletion	SAMN00001632	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,311
essv6552408	deletion	SAMN00001172	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,516

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5397849	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv5440064	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv5470929	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv5487317	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv5559256	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv5611386	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv5638075	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv5654174	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv5704996	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv5720153	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv5816921	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv5825280	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv5841579	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv6174288	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv6210635	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv6291172	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv6309065	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv6323931	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv6402864	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv6457760	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv6482249	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv6505614	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv6552408	Remapped	Perfect	NC_000012.12:g.804 29576_80434464delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,429,576	80,434,464
essv5397849	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv5440064	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv5470929	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv5487317	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv5559256	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv5611386	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv5638075	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv5654174	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv5704996	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv5720153	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv5816921	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv5825280	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv5841579	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv6174288	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv6210635	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv6291172	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv6309065	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv6323931	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv6402864	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv6457760	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv6482249	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv6505614	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244
essv6552408	Submitted genomic		NC_000012.11:g.808 23356_80828244delT	GRCh37 (hg19)		NC_000012.11	Chr12	80,823,356	80,828,244

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5397849	7	SAMN00000430	SNP array	Probe signal intensity	Pass
essv6309065	7	SAMN00000436	SNP array	Probe signal intensity	Pass
essv5638075	7	SAMN00000454	SNP array	Probe signal intensity	Pass
essv5440064	7	SAMN00000506	SNP array	Probe signal intensity	Pass
essv6323931	7	SAMN00000518	SNP array	Probe signal intensity	Pass
essv6174288	7	SAMN00001144	SNP array	Probe signal intensity	Pass
essv6552408	7	SAMN00001172	SNP array	Probe signal intensity	Pass
essv5841579	7	SAMN00001177	SNP array	Probe signal intensity	Pass
essv5825280	7	SAMN00001185	SNP array	Probe signal intensity	Pass
essv5559256	7	SAMN00001590	SNP array	Probe signal intensity	Pass
essv5704996	7	SAMN00001631	SNP array	Probe signal intensity	Pass
essv6505614	7	SAMN00001632	SNP array	Probe signal intensity	Pass
essv5816921	7	SAMN00006459	SNP array	Probe signal intensity	Pass
essv5470929	7	SAMN00006474	SNP array	Probe signal intensity	Pass
essv6457760	7	SAMN00006486	SNP array	Probe signal intensity	Pass
essv6210635	7	SAMN00006517	SNP array	Probe signal intensity	Pass
essv6402864	7	SAMN00006547	SNP array	Probe signal intensity	Pass
essv5611386	7	SAMN00006568	SNP array	Probe signal intensity	Pass
essv5720153	7	SAMN00006570	SNP array	Probe signal intensity	Pass
essv5487317	7	SAMN00007756	SNP array	Probe signal intensity	Pass
essv5654174	7	SAMN00007785	SNP array	Probe signal intensity	Pass
essv6291172	7	SAMN00007817	SNP array	Probe signal intensity	Pass
essv6482249	7	SAMN00014312	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2678595

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

Validation Information

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant