esv2664762

Organism: Homo sapiens

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

Variant Calls:17
Validation:Not tested
Clinical Assertions: No
Region Size:7,690

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: 272 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):129,422,943-129,430,632

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2664762	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	129,422,943	129,430,632
esv2664762	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	130,435,189	130,442,878

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5401490	deletion	SAMN00007810	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,430
essv5525666	deletion	SAMN00001632	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,311
essv5563981	deletion	SAMN00001678	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,467
essv5618728	deletion	SAMN00001107	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	943
essv5736766	deletion	SAMN00001576	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,882
essv5739108	deletion	SAMN00001183	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,354
essv5912304	deletion	SAMN00007701	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,028
essv5939534	deletion	SAMN00001187	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,291
essv6043273	deletion	SAMN00009146	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,904
essv6075644	deletion	SAMN00001149	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,599
essv6100809	deletion	SAMN00001696	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,202
essv6180539	deletion	SAMN00000477	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,250
essv6331521	deletion	SAMN00001695	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,174
essv6339843	deletion	SAMN00001152	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,509
essv6398135	deletion	SAMN00001697	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,511
essv6438787	deletion	SAMN00001624	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,608
essv6569189	deletion	SAMN00007806	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,659

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5401490	Remapped	Perfect	NC_000008.11:g.129 422943_129430632de lAGCATGG	GRCh38.p12	First Pass	NC_000008.11	Chr8	129,422,943	129,430,632
essv5525666	Remapped	Perfect	NC_000008.11:g.129 422943_129430632de lAGCATGG	GRCh38.p12	First Pass	NC_000008.11	Chr8	129,422,943	129,430,632
essv5563981	Remapped	Perfect	NC_000008.11:g.129 422943_129430632de lAGCATGG	GRCh38.p12	First Pass	NC_000008.11	Chr8	129,422,943	129,430,632
essv5618728	Remapped	Perfect	NC_000008.11:g.129 422943_129430632de lAGCATGG	GRCh38.p12	First Pass	NC_000008.11	Chr8	129,422,943	129,430,632
essv5736766	Remapped	Perfect	NC_000008.11:g.129 422943_129430632de lAGCATGG	GRCh38.p12	First Pass	NC_000008.11	Chr8	129,422,943	129,430,632
essv5739108	Remapped	Perfect	NC_000008.11:g.129 422943_129430632de lAGCATGG	GRCh38.p12	First Pass	NC_000008.11	Chr8	129,422,943	129,430,632
essv5912304	Remapped	Perfect	NC_000008.11:g.129 422943_129430632de lAGCATGG	GRCh38.p12	First Pass	NC_000008.11	Chr8	129,422,943	129,430,632
essv5939534	Remapped	Perfect	NC_000008.11:g.129 422943_129430632de lAGCATGG	GRCh38.p12	First Pass	NC_000008.11	Chr8	129,422,943	129,430,632
essv6043273	Remapped	Perfect	NC_000008.11:g.129 422943_129430632de lAGCATGG	GRCh38.p12	First Pass	NC_000008.11	Chr8	129,422,943	129,430,632
essv6075644	Remapped	Perfect	NC_000008.11:g.129 422943_129430632de lAGCATGG	GRCh38.p12	First Pass	NC_000008.11	Chr8	129,422,943	129,430,632
essv6100809	Remapped	Perfect	NC_000008.11:g.129 422943_129430632de lAGCATGG	GRCh38.p12	First Pass	NC_000008.11	Chr8	129,422,943	129,430,632
essv6180539	Remapped	Perfect	NC_000008.11:g.129 422943_129430632de lAGCATGG	GRCh38.p12	First Pass	NC_000008.11	Chr8	129,422,943	129,430,632
essv6331521	Remapped	Perfect	NC_000008.11:g.129 422943_129430632de lAGCATGG	GRCh38.p12	First Pass	NC_000008.11	Chr8	129,422,943	129,430,632
essv6339843	Remapped	Perfect	NC_000008.11:g.129 422943_129430632de lAGCATGG	GRCh38.p12	First Pass	NC_000008.11	Chr8	129,422,943	129,430,632
essv6398135	Remapped	Perfect	NC_000008.11:g.129 422943_129430632de lAGCATGG	GRCh38.p12	First Pass	NC_000008.11	Chr8	129,422,943	129,430,632
essv6438787	Remapped	Perfect	NC_000008.11:g.129 422943_129430632de lAGCATGG	GRCh38.p12	First Pass	NC_000008.11	Chr8	129,422,943	129,430,632
essv6569189	Remapped	Perfect	NC_000008.11:g.129 422943_129430632de lAGCATGG	GRCh38.p12	First Pass	NC_000008.11	Chr8	129,422,943	129,430,632
essv5401490	Submitted genomic		NC_000008.10:g.130 435189_130442878de lAGCATGG	GRCh37 (hg19)		NC_000008.10	Chr8	130,435,189	130,442,878
essv5525666	Submitted genomic		NC_000008.10:g.130 435189_130442878de lAGCATGG	GRCh37 (hg19)		NC_000008.10	Chr8	130,435,189	130,442,878
essv5563981	Submitted genomic		NC_000008.10:g.130 435189_130442878de lAGCATGG	GRCh37 (hg19)		NC_000008.10	Chr8	130,435,189	130,442,878
essv5618728	Submitted genomic		NC_000008.10:g.130 435189_130442878de lAGCATGG	GRCh37 (hg19)		NC_000008.10	Chr8	130,435,189	130,442,878
essv5736766	Submitted genomic		NC_000008.10:g.130 435189_130442878de lAGCATGG	GRCh37 (hg19)		NC_000008.10	Chr8	130,435,189	130,442,878
essv5739108	Submitted genomic		NC_000008.10:g.130 435189_130442878de lAGCATGG	GRCh37 (hg19)		NC_000008.10	Chr8	130,435,189	130,442,878
essv5912304	Submitted genomic		NC_000008.10:g.130 435189_130442878de lAGCATGG	GRCh37 (hg19)		NC_000008.10	Chr8	130,435,189	130,442,878
essv5939534	Submitted genomic		NC_000008.10:g.130 435189_130442878de lAGCATGG	GRCh37 (hg19)		NC_000008.10	Chr8	130,435,189	130,442,878
essv6043273	Submitted genomic		NC_000008.10:g.130 435189_130442878de lAGCATGG	GRCh37 (hg19)		NC_000008.10	Chr8	130,435,189	130,442,878
essv6075644	Submitted genomic		NC_000008.10:g.130 435189_130442878de lAGCATGG	GRCh37 (hg19)		NC_000008.10	Chr8	130,435,189	130,442,878
essv6100809	Submitted genomic		NC_000008.10:g.130 435189_130442878de lAGCATGG	GRCh37 (hg19)		NC_000008.10	Chr8	130,435,189	130,442,878
essv6180539	Submitted genomic		NC_000008.10:g.130 435189_130442878de lAGCATGG	GRCh37 (hg19)		NC_000008.10	Chr8	130,435,189	130,442,878
essv6331521	Submitted genomic		NC_000008.10:g.130 435189_130442878de lAGCATGG	GRCh37 (hg19)		NC_000008.10	Chr8	130,435,189	130,442,878
essv6339843	Submitted genomic		NC_000008.10:g.130 435189_130442878de lAGCATGG	GRCh37 (hg19)		NC_000008.10	Chr8	130,435,189	130,442,878
essv6398135	Submitted genomic		NC_000008.10:g.130 435189_130442878de lAGCATGG	GRCh37 (hg19)		NC_000008.10	Chr8	130,435,189	130,442,878
essv6438787	Submitted genomic		NC_000008.10:g.130 435189_130442878de lAGCATGG	GRCh37 (hg19)		NC_000008.10	Chr8	130,435,189	130,442,878
essv6569189	Submitted genomic		NC_000008.10:g.130 435189_130442878de lAGCATGG	GRCh37 (hg19)		NC_000008.10	Chr8	130,435,189	130,442,878

dbVar

Database of genomic structural variation

esv2664762

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant