esv2663949

Organism: Homo sapiens

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

Variant Calls:47
Validation:Yes
Clinical Assertions: No
Region Size:10,939

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: 377 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):54,030,525-54,041,463

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2663949	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
esv2663949	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	52,647,064	52,658,002

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5418438	deletion	SAMN00009094	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,659
essv5444542	deletion	SAMN00006596	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,607
essv5458187	deletion	SAMN00009163	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,477
essv5465606	deletion	SAMN00004640	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,063
essv5476098	deletion	SAMN00006583	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,292
essv5510828	deletion	SAMN00001253	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	912
essv5540535	deletion	SAMN00001324	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	861
essv5553221	deletion	SAMN00001265	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	933
essv5612527	deletion	SAMN00009175	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,711
essv5649949	deletion	SAMN00014317	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,665
essv5691109	deletion	SAMN00006598	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,574
essv5710881	deletion	SAMN00014326	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,595
essv5727447	deletion	SAMN00007729	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,132
essv5753489	deletion	SAMN00004668	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,117
essv5784933	deletion	SAMN00006416	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,037
essv5799731	deletion	SAMN00006537	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,102
essv5819306	deletion	SAMN00009174	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,638
essv5840791	deletion	SAMN00007732	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,164
essv5890967	deletion	SAMN00006579	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,224
essv5912514	deletion	SAMN00007803	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,683
essv5938805	deletion	SAMN00001243	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	823
essv5945129	deletion	SAMN00001335	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	911
essv5959265	deletion	SAMN00009159	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,606
essv5977522	deletion	SAMN00007738	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,656
essv5995792	deletion	SAMN00001187	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,291
essv6008592	deletion	SAMN00001226	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	788
essv6042274	deletion	SAMN00001289	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	848
essv6109180	deletion	SAMN00001235	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	869
essv6161280	deletion	SAMN00009154	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,617
essv6165642	deletion	SAMN00006342	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,300
essv6172895	deletion	SAMN00009190	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,097
essv6183232	deletion	SAMN00801912	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	943
essv6266516	deletion	SAMN00009136	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,371
essv6279283	deletion	SAMN00016979	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	937
essv6403614	deletion	SAMN00009126	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,897
essv6439324	deletion	SAMN00009189	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,058
essv6445865	deletion	SAMN00014395	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	812
essv6481775	deletion	SAMN00007701	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,028
essv6509804	deletion	SAMN00004664	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,019
essv6514633	deletion	SAMN00001275	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	849
essv6515327	deletion	SAMN00009123	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,809
essv6518585	deletion	SAMN00014321	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	793
essv6540445	deletion	SAMN00801888	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	931
essv6547473	deletion	SAMN00006423	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,641
essv6553178	deletion	SAMN00009153	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,539
essv6587466	deletion	SAMN00000397	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	960
essv6596381	deletion	SAMN00007714	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,155

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5418438	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5444542	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5458187	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5465606	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5476098	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5510828	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5540535	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5553221	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5612527	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5649949	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5691109	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5710881	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5727447	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5753489	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5784933	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5799731	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5819306	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5840791	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5890967	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5912514	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5938805	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5945129	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5959265	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5977522	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5995792	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6008592	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6042274	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6109180	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6161280	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6165642	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6172895	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6183232	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6266516	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6279283	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6403614	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6439324	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6445865	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6481775	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6509804	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6514633	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6515327	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6518585	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6540445	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6547473	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6553178	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6587466	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv6596381	Remapped	Perfect	NC_000020.11:g.540 30525_54041463delC	GRCh38.p12	First Pass	NC_000020.11	Chr20	54,030,525	54,041,463
essv5418438	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5444542	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5458187	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5465606	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5476098	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5510828	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5540535	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5553221	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5612527	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5649949	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5691109	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5710881	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5727447	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5753489	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5784933	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5799731	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5819306	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5840791	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5890967	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5912514	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5938805	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5945129	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5959265	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5977522	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv5995792	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6008592	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6042274	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6109180	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6161280	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6165642	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6172895	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6183232	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6266516	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6279283	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6403614	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6439324	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6445865	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6481775	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6509804	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6514633	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6515327	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6518585	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6540445	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6547473	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6553178	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6587466	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002
essv6596381	Submitted genomic		NC_000020.10:g.526 47064_52658002delC	GRCh37 (hg19)		NC_000020.10	Chr20	52,647,064	52,658,002

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6587466	9	SAMN00000397	Oligo aCGH	Probe signal intensity	Pass
essv5995792	9	SAMN00001187	Oligo aCGH	Probe signal intensity	Pass
essv6008592	9	SAMN00001226	Oligo aCGH	Probe signal intensity	Pass
essv6109180	9	SAMN00001235	Oligo aCGH	Probe signal intensity	Pass
essv5938805	9	SAMN00001243	Oligo aCGH	Probe signal intensity	Pass
essv5510828	9	SAMN00001253	Oligo aCGH	Probe signal intensity	Pass
essv5553221	9	SAMN00001265	Oligo aCGH	Probe signal intensity	Pass
essv6514633	9	SAMN00001275	Oligo aCGH	Probe signal intensity	Pass
essv6042274	9	SAMN00001289	Oligo aCGH	Probe signal intensity	Pass
essv5540535	9	SAMN00001324	Oligo aCGH	Probe signal intensity	Pass
essv5945129	9	SAMN00001335	Oligo aCGH	Probe signal intensity	Pass
essv5465606	9	SAMN00004640	Oligo aCGH	Probe signal intensity	Pass
essv6509804	9	SAMN00004664	Oligo aCGH	Probe signal intensity	Pass
essv5753489	9	SAMN00004668	Oligo aCGH	Probe signal intensity	Pass
essv6165642	9	SAMN00006342	Oligo aCGH	Probe signal intensity	Pass
essv5784933	9	SAMN00006416	Oligo aCGH	Probe signal intensity	Pass
essv6547473	9	SAMN00006423	Oligo aCGH	Probe signal intensity	Pass
essv5799731	9	SAMN00006537	Oligo aCGH	Probe signal intensity	Pass
essv5890967	9	SAMN00006579	Oligo aCGH	Probe signal intensity	Pass
essv5476098	9	SAMN00006583	Oligo aCGH	Probe signal intensity	Pass
essv5444542	9	SAMN00006596	Oligo aCGH	Probe signal intensity	Pass
essv5691109	9	SAMN00006598	Oligo aCGH	Probe signal intensity	Pass
essv6481775	9	SAMN00007701	Oligo aCGH	Probe signal intensity	Pass
essv6596381	9	SAMN00007714	Oligo aCGH	Probe signal intensity	Pass
essv5727447	9	SAMN00007729	Oligo aCGH	Probe signal intensity	Pass
essv5840791	9	SAMN00007732	Oligo aCGH	Probe signal intensity	Pass
essv5977522	9	SAMN00007738	Oligo aCGH	Probe signal intensity	Pass
essv5912514	9	SAMN00007803	Oligo aCGH	Probe signal intensity	Pass
essv5418438	9	SAMN00009094	Oligo aCGH	Probe signal intensity	Pass
essv6515327	9	SAMN00009123	Oligo aCGH	Probe signal intensity	Pass
essv6403614	9	SAMN00009126	Oligo aCGH	Probe signal intensity	Pass
essv6266516	9	SAMN00009136	Oligo aCGH	Probe signal intensity	Pass
essv6553178	9	SAMN00009153	Oligo aCGH	Probe signal intensity	Pass
essv6161280	9	SAMN00009154	Oligo aCGH	Probe signal intensity	Pass
essv5959265	9	SAMN00009159	Oligo aCGH	Probe signal intensity	Pass
essv5458187	9	SAMN00009163	Oligo aCGH	Probe signal intensity	Pass
essv5819306	9	SAMN00009174	Oligo aCGH	Probe signal intensity	Pass
essv5612527	9	SAMN00009175	Oligo aCGH	Probe signal intensity	Pass
essv6439324	9	SAMN00009189	Oligo aCGH	Probe signal intensity	Pass
essv6172895	9	SAMN00009190	Oligo aCGH	Probe signal intensity	Pass
essv5649949	9	SAMN00014317	Oligo aCGH	Probe signal intensity	Pass
essv6518585	9	SAMN00014321	Oligo aCGH	Probe signal intensity	Pass
essv5710881	9	SAMN00014326	Oligo aCGH	Probe signal intensity	Pass
essv6445865	9	SAMN00014395	Oligo aCGH	Probe signal intensity	Pass
essv6279283	9	SAMN00016979	Oligo aCGH	Probe signal intensity	Pass
essv6540445	9	SAMN00801888	Oligo aCGH	Probe signal intensity	Pass
essv6183232	9	SAMN00801912	Oligo aCGH	Probe signal intensity	Pass
essv6587466	7	SAMN00000397	SNP array	Probe signal intensity	Pass
essv5995792	7	SAMN00001187	SNP array	Probe signal intensity	Pass
essv6008592	7	SAMN00001226	SNP array	Probe signal intensity	Pass
essv6109180	7	SAMN00001235	SNP array	Probe signal intensity	Pass
essv5938805	7	SAMN00001243	SNP array	Probe signal intensity	Pass
essv5510828	7	SAMN00001253	SNP array	Probe signal intensity	Pass
essv5553221	7	SAMN00001265	SNP array	Probe signal intensity	Pass
essv6514633	7	SAMN00001275	SNP array	Probe signal intensity	Pass
essv6042274	7	SAMN00001289	SNP array	Probe signal intensity	Pass
essv5540535	7	SAMN00001324	SNP array	Probe signal intensity	Pass
essv5945129	7	SAMN00001335	SNP array	Probe signal intensity	Pass
essv5465606	7	SAMN00004640	SNP array	Probe signal intensity	Pass
essv6509804	7	SAMN00004664	SNP array	Probe signal intensity	Pass
essv5753489	7	SAMN00004668	SNP array	Probe signal intensity	Pass
essv6165642	7	SAMN00006342	SNP array	Probe signal intensity	Pass
essv5784933	7	SAMN00006416	SNP array	Probe signal intensity	Pass
essv6547473	7	SAMN00006423	SNP array	Probe signal intensity	Pass
essv5799731	7	SAMN00006537	SNP array	Probe signal intensity	Pass
essv5890967	7	SAMN00006579	SNP array	Probe signal intensity	Pass
essv5476098	7	SAMN00006583	SNP array	Probe signal intensity	Pass
essv5444542	7	SAMN00006596	SNP array	Probe signal intensity	Pass
essv5691109	7	SAMN00006598	SNP array	Probe signal intensity	Pass
essv6481775	7	SAMN00007701	SNP array	Probe signal intensity	Pass
essv6596381	7	SAMN00007714	SNP array	Probe signal intensity	Pass
essv5727447	7	SAMN00007729	SNP array	Probe signal intensity	Pass
essv5840791	7	SAMN00007732	SNP array	Probe signal intensity	Pass
essv5977522	7	SAMN00007738	SNP array	Probe signal intensity	Pass
essv5912514	7	SAMN00007803	SNP array	Probe signal intensity	Pass
essv5418438	7	SAMN00009094	SNP array	Probe signal intensity	Pass
essv6515327	7	SAMN00009123	SNP array	Probe signal intensity	Pass
essv6403614	7	SAMN00009126	SNP array	Probe signal intensity	Pass
essv6266516	7	SAMN00009136	SNP array	Probe signal intensity	Pass
essv6553178	7	SAMN00009153	SNP array	Probe signal intensity	Pass
essv6161280	7	SAMN00009154	SNP array	Probe signal intensity	Pass
essv5959265	7	SAMN00009159	SNP array	Probe signal intensity	Pass
essv5458187	7	SAMN00009163	SNP array	Probe signal intensity	Pass
essv5819306	7	SAMN00009174	SNP array	Probe signal intensity	Pass
essv5612527	7	SAMN00009175	SNP array	Probe signal intensity	Pass
essv6439324	7	SAMN00009189	SNP array	Probe signal intensity	Pass
essv6172895	7	SAMN00009190	SNP array	Probe signal intensity	Pass
essv5649949	7	SAMN00014317	SNP array	Probe signal intensity	Pass
essv6518585	7	SAMN00014321	SNP array	Probe signal intensity	Pass
essv5710881	7	SAMN00014326	SNP array	Probe signal intensity	Pass
essv6445865	7	SAMN00014395	SNP array	Probe signal intensity	Pass
essv6279283	7	SAMN00016979	SNP array	Probe signal intensity	Pass
essv6540445	7	SAMN00801888	SNP array	Probe signal intensity	Pass
essv6183232	7	SAMN00801912	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2663949

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