esv2677048

Organism: Homo sapiens

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

Variant Calls:44
Validation:Yes
Clinical Assertions: No
Region Size:6,298

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: 429 SVs from 64 studies. See in: genome view

Remapped(Score: Perfect):195,114,521-195,120,818

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
esv2677048	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
esv2677048	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5425856	deletion	SAMN00000565	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,221
essv5436139	deletion	SAMN00000484	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	848
essv5494986	deletion	SAMN00001693	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,362
essv5560328	deletion	SAMN00000573	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,195
essv5562468	deletion	SAMN00001624	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,608
essv5597882	deletion	SAMN00000482	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	982
essv5641480	deletion	SAMN00001670	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	814
essv5659255	deletion	SAMN00001578	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,497
essv5681492	deletion	SAMN00001588	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,394
essv5707763	deletion	SAMN00001679	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	908
essv5707848	deletion	SAMN00001591	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,475
essv5833167	deletion	SAMN00001686	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	807
essv5834675	deletion	SAMN00001671	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,447
essv5861694	deletion	SAMN00001691	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	803
essv5900612	deletion	SAMN00001668	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,411
essv5934106	deletion	SAMN00001585	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,431
essv5940090	deletion	SAMN00001629	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,430
essv5966348	deletion	SAMN00001581	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,469
essv5985677	deletion	SAMN00000571	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,271
essv6060381	deletion	SAMN00001623	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,585
essv6069274	deletion	SAMN00001697	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,511
essv6069324	deletion	SAMN00000567	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	937
essv6072391	deletion	SAMN00001589	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,492
essv6093897	deletion	SAMN00001626	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,427
essv6172758	deletion	SAMN00001580	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,552
essv6198284	deletion	SAMN00001625	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,265
essv6278011	deletion	SAMN00001586	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,356
essv6280031	deletion	SAMN00001664	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	794
essv6343144	deletion	SAMN00001583	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,451
essv6367403	deletion	SAMN00001674	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,625
essv6409701	deletion	SAMN00001690	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	805
essv6434413	deletion	SAMN00001663	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,745
essv6435618	deletion	SAMN00001681	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	791
essv6454654	deletion	SAMN00001584	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,421
essv6463572	deletion	SAMN00001669	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,589
essv6465586	deletion	SAMN00000483	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,009
essv6471151	deletion	SAMN00000414	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,260
essv6498602	deletion	SAMN00001630	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,448
essv6507081	deletion	SAMN00000572	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,233
essv6547540	deletion	SAMN00001667	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,455
essv6552944	deletion	SAMN00000481	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	950
essv6562402	deletion	SAMN00001631	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,164
essv6566842	deletion	SAMN00000477	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,250
essv6569614	deletion	SAMN00000555	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,645

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5425856	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv5436139	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv5494986	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv5560328	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv5562468	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv5597882	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv5641480	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv5659255	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv5681492	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv5707763	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv5707848	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv5833167	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv5834675	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv5861694	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv5900612	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv5934106	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv5940090	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv5966348	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv5985677	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6060381	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6069274	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6069324	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6072391	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6093897	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6172758	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6198284	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6278011	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6280031	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6343144	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6367403	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6409701	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6434413	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6435618	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6454654	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6463572	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6465586	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6471151	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6498602	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6507081	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6547540	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6552944	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6562402	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6566842	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv6569614	Remapped	Perfect	NC_000002.12:g.(19 5114521_195114892) _(195120448_195120 818)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	195,114,521	195,114,892	195,120,448	195,120,818
essv5425856	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv5436139	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv5494986	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv5560328	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv5562468	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv5597882	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv5641480	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv5659255	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv5681492	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv5707763	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv5707848	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv5833167	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv5834675	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv5861694	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv5900612	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv5934106	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv5940090	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv5966348	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv5985677	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6060381	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6069274	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6069324	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6072391	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6093897	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6172758	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6198284	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6278011	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6280031	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6343144	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6367403	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6409701	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6434413	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6435618	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6454654	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6463572	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6465586	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6471151	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6498602	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6507081	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6547540	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6552944	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6562402	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6566842	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542
essv6569614	Submitted genomic		NC_000002.11:g.(19 5979245_195979616) _(195985172_195985 542)del	GRCh37 (hg19)		NC_000002.11	Chr2	195,979,245	195,979,616	195,985,172	195,985,542

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6471151	7	SAMN00000414	SNP array	Probe signal intensity	Pass
essv6566842	7	SAMN00000477	SNP array	Probe signal intensity	Pass
essv6552944	7	SAMN00000481	SNP array	Probe signal intensity	Pass
essv5597882	7	SAMN00000482	SNP array	Probe signal intensity	Pass
essv6465586	7	SAMN00000483	SNP array	Probe signal intensity	Pass
essv5436139	7	SAMN00000484	SNP array	Probe signal intensity	Pass
essv6569614	7	SAMN00000555	SNP array	Probe signal intensity	Pass
essv5425856	7	SAMN00000565	SNP array	Probe signal intensity	Pass
essv6069324	7	SAMN00000567	SNP array	Probe signal intensity	Pass
essv5985677	7	SAMN00000571	SNP array	Probe signal intensity	Pass
essv6507081	7	SAMN00000572	SNP array	Probe signal intensity	Pass
essv5560328	7	SAMN00000573	SNP array	Probe signal intensity	Pass
essv5659255	7	SAMN00001578	SNP array	Probe signal intensity	Pass
essv6172758	7	SAMN00001580	SNP array	Probe signal intensity	Pass
essv5966348	7	SAMN00001581	SNP array	Probe signal intensity	Pass
essv6343144	7	SAMN00001583	SNP array	Probe signal intensity	Pass
essv6454654	7	SAMN00001584	SNP array	Probe signal intensity	Pass
essv5934106	7	SAMN00001585	SNP array	Probe signal intensity	Pass
essv6278011	7	SAMN00001586	SNP array	Probe signal intensity	Pass
essv5681492	7	SAMN00001588	SNP array	Probe signal intensity	Pass
essv6072391	7	SAMN00001589	SNP array	Probe signal intensity	Pass
essv5707848	7	SAMN00001591	SNP array	Probe signal intensity	Pass
essv6060381	7	SAMN00001623	SNP array	Probe signal intensity	Pass
essv5562468	7	SAMN00001624	SNP array	Probe signal intensity	Pass
essv6198284	7	SAMN00001625	SNP array	Probe signal intensity	Pass
essv6093897	7	SAMN00001626	SNP array	Probe signal intensity	Pass
essv5940090	7	SAMN00001629	SNP array	Probe signal intensity	Pass
essv6498602	7	SAMN00001630	SNP array	Probe signal intensity	Pass
essv6562402	7	SAMN00001631	SNP array	Probe signal intensity	Pass
essv6434413	7	SAMN00001663	SNP array	Probe signal intensity	Pass
essv6280031	7	SAMN00001664	SNP array	Probe signal intensity	Pass
essv6547540	7	SAMN00001667	SNP array	Probe signal intensity	Pass
essv5900612	7	SAMN00001668	SNP array	Probe signal intensity	Pass
essv6463572	7	SAMN00001669	SNP array	Probe signal intensity	Pass
essv5641480	7	SAMN00001670	SNP array	Probe signal intensity	Pass
essv5834675	7	SAMN00001671	SNP array	Probe signal intensity	Pass
essv6367403	7	SAMN00001674	SNP array	Probe signal intensity	Pass
essv5707763	7	SAMN00001679	SNP array	Probe signal intensity	Pass
essv6435618	7	SAMN00001681	SNP array	Probe signal intensity	Pass
essv5833167	7	SAMN00001686	SNP array	Probe signal intensity	Pass
essv6409701	7	SAMN00001690	SNP array	Probe signal intensity	Pass
essv5861694	7	SAMN00001691	SNP array	Probe signal intensity	Pass
essv5494986	7	SAMN00001693	SNP array	Probe signal intensity	Pass
essv6069274	7	SAMN00001697	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2677048

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