esv3820316

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:32
Validation:Not tested
Clinical Assertions: No
Region Size:51,065

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

Remapped(Score: Perfect):105,621,767-105,672,832

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3820316	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
esv3820316	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv17186498	deletion	HG01286	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,249
essv17186499	deletion	HG02315	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,782
essv17186500	deletion	HG02322	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,722
essv17186501	deletion	HG02394	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,636
essv17186502	deletion	HG02429	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,174
essv17186503	deletion	HG02479	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,605
essv17186504	deletion	HG02561	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,067
essv17186505	deletion	HG02611	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,051
essv17186506	deletion	HG02805	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,840
essv17186507	deletion	HG02944	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,095
essv17186508	deletion	HG02953	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,984
essv17186509	deletion	HG02979	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,876
essv17186510	deletion	HG03111	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv17186511	deletion	HG03127	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,354
essv17186512	deletion	HG03133	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,119
essv17186513	deletion	HG03168	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,002
essv17186514	deletion	HG03246	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Homozygous	3,863
essv17186515	deletion	HG03279	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,797
essv17186516	deletion	HG03301	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,858
essv17186517	deletion	HG03520	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,182
essv17186518	deletion	NA18522	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,533
essv17186519	deletion	NA18876	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,013
essv17186520	deletion	NA18910	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,161
essv17186521	deletion	NA19030	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,929
essv17186522	deletion	NA19102	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,889
essv17186523	deletion	NA19108	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,010
essv17186524	deletion	NA19374	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,853
essv17186525	deletion	NA19384	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,966
essv17186526	deletion	NA19404	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,691
essv17186527	deletion	NA19449	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,523
essv17186528	deletion	NA20359	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,821
essv17186529	deletion	NA20362	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,175

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv17186498	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186499	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186500	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186501	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186502	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186503	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186504	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186505	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186506	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186507	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186508	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186509	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186510	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186511	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186512	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186513	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186514	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186515	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186516	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186517	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186518	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186519	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186520	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186521	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186522	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186523	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186524	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186525	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186526	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186527	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186528	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186529	Remapped	Perfect	NC_000001.11:g.(10 5621767_105621768) _(105672831_105672 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	105,621,767 (-0, +1)	105,672,831 (-0, +1)
essv17186498	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186499	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186500	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186501	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186502	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186503	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186504	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186505	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186506	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186507	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186508	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186509	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186510	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186511	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186512	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186513	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186514	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186515	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186516	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186517	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186518	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186519	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186520	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186521	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186522	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186523	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186524	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186525	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186526	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186527	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186528	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)
essv17186529	Submitted genomic		NC_000001.10:g.(10 6164389_106164390) _(106215453_106215 454)del	GRCh37 (hg19)		NC_000001.10	Chr1	106,164,389 (-0, +1)	106,215,453 (-0, +1)

dbVar

Database of genomic structural variation

esv3820316

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.