esv3821565

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:26
Validation:Not tested
Clinical Assertions: No
Region Size:54,485

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 614 SVs from 72 studies. See in: genome view

Remapped(Score: Perfect):189,493,536-189,548,020

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3821565	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
esv3821565	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	189,462,666	189,517,150

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv17370076	copy number loss	HG00513	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,163
essv17370077	copy number loss	HG00566	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,182
essv17370078	copy number loss	HG00663	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,261
essv17370079	copy number loss	HG00671	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,639
essv17370080	copy number loss	HG00672	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,259
essv17370081	copy number loss	HG00689	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,593
essv17370082	copy number loss	HG00864	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,332
essv17370083	copy number loss	HG01597	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,447
essv17370084	copy number loss	HG01796	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,389
essv17370085	copy number loss	HG01808	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,403
essv17370086	copy number loss	HG01811	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,633
essv17370087	copy number loss	HG02134	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,620
essv17370088	copy number loss	HG02139	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,185
essv17370089	copy number loss	HG02140	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,299
essv17370090	copy number loss	HG02367	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,628
essv17370091	copy number loss	HG02373	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,694
essv17370092	copy number loss	HG02397	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,636
essv17370093	copy number loss	HG02407	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,722
essv17370094	copy number loss	NA18542	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,413
essv17370095	copy number loss	NA18552	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,215
essv17370096	copy number loss	NA18562	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,633
essv17370097	copy number loss	NA18954	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,085
essv17370098	copy number loss	NA18967	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,106
essv17370099	copy number loss	NA18975	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,236
essv17370100	copy number loss	NA18981	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,135
essv17370101	copy number gain	HG03271	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,890

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv17370076	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370077	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370078	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370079	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370080	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370081	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370082	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370083	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370084	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370085	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370086	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370087	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370088	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370089	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370090	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370091	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370092	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370093	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370094	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370095	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370096	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370097	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370098	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370099	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370100	Remapped	Perfect	NC_000001.11:g.189 493536_189548020de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370101	Remapped	Perfect	NC_000001.11:g.189 493536_189548020du p	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,493,536	189,548,020
essv17370076	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370077	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370078	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370079	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370080	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370081	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370082	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370083	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370084	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370085	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370086	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370087	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370088	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370089	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370090	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370091	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370092	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370093	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370094	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370095	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370096	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370097	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370098	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370099	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370100	Submitted genomic		NC_000001.10:g.189 462666_189517150de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150
essv17370101	Submitted genomic		NC_000001.10:g.189 462666_189517150du p	GRCh37 (hg19)		NC_000001.10	Chr1	189,462,666	189,517,150

dbVar

Database of genomic structural variation

esv3821565

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

Genotype and/or allele frequency data can be found on dbVar's FTP site.