esv3603986

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:39
Validation:Not tested
Clinical Assertions: No
Region Size:23,151

Publication(s):1000 Genomes Project Consortium et al. 2015

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: 535 SVs from 67 studies. See in: genome view

Remapped(Score: Perfect):9,901,083-9,924,233

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3603986	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
esv3603986	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	9,901,195	9,924,345

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv11807433	copy number loss	SAMN00009146	Sequencing	Read depth and paired-end mapping	Heterozygous	3,006
essv11807434	copy number loss	SAMN00009163	Sequencing	Read depth and paired-end mapping	Heterozygous	2,929
essv11807435	copy number loss	SAMN00009214	Sequencing	Read depth and paired-end mapping	Heterozygous	2,816
essv11807436	copy number loss	SAMN01091122	Sequencing	Read depth and paired-end mapping	Heterozygous	2,238
essv11807437	copy number loss	SAMN01091125	Sequencing	Read depth and paired-end mapping	Heterozygous	2,183
essv11807438	copy number loss	SAMN00014406	Sequencing	Read depth and paired-end mapping	Heterozygous	2,581
essv11807439	copy number loss	SAMN00255124	Sequencing	Read depth and paired-end mapping	Heterozygous	3,388
essv11807440	copy number loss	SAMN00262968	Sequencing	Read depth and paired-end mapping	Heterozygous	3,187
essv11807441	copy number loss	SAMN00249705	Sequencing	Read depth and paired-end mapping	Heterozygous	2,418
essv11807442	copy number loss	SAMN00255134	Sequencing	Read depth and paired-end mapping	Heterozygous	2,443
essv11807443	copy number loss	SAMN01761361	Sequencing	Read depth and paired-end mapping	Heterozygous	2,849
essv11807444	copy number loss	SAMN01036728	Sequencing	Read depth and paired-end mapping	Heterozygous	2,564
essv11807445	copy number loss	SAMN01090752	Sequencing	Read depth and paired-end mapping	Heterozygous	3,116
essv11807446	copy number loss	SAMN01090936	Sequencing	Read depth and paired-end mapping	Heterozygous	2,688
essv11807447	copy number loss	SAMN01091004	Sequencing	Read depth and paired-end mapping	Heterozygous	2,722
essv11807448	copy number loss	SAMN01091012	Sequencing	Read depth and paired-end mapping	Heterozygous	2,805
essv11807449	copy number loss	SAMN01096746	Sequencing	Read depth and paired-end mapping	Heterozygous	2,682
essv11807450	copy number loss	SAMN01761559	Sequencing	Read depth and paired-end mapping	Heterozygous	2,216
essv11807451	copy number loss	SAMN01091020	Sequencing	Read depth and paired-end mapping	Heterozygous	2,754
essv11807452	copy number loss	SAMN01096686	Sequencing	Read depth and paired-end mapping	Heterozygous	2,657
essv11807453	copy number loss	SAMN01761469	Sequencing	Read depth and paired-end mapping	Heterozygous	2,293
essv11807454	copy number loss	SAMN01090978	Sequencing	Read depth and paired-end mapping	Heterozygous	2,789
essv11807455	copy number loss	SAMN01096692	Sequencing	Read depth and paired-end mapping	Heterozygous	2,746
essv11807456	copy number loss	SAMN01090963	Sequencing	Read depth and paired-end mapping	Heterozygous	2,676
essv11807457	copy number loss	SAMN01096720	Sequencing	Read depth and paired-end mapping	Heterozygous	2,511
essv11807458	copy number loss	SAMN01761599	Sequencing	Read depth and paired-end mapping	Heterozygous	2,936
essv11807459	copy number loss	SAMN01761528	Sequencing	Read depth and paired-end mapping	Heterozygous	2,233
essv11807460	copy number loss	SAMN01761589	Sequencing	Read depth and paired-end mapping	Heterozygous	2,862
essv11807461	copy number loss	SAMN00000407	Sequencing	Read depth and paired-end mapping	Heterozygous	2,756
essv11807462	copy number loss	SAMN00001125	Sequencing	Read depth and paired-end mapping	Heterozygous	3,001
essv11807463	copy number loss	SAMN00001237	Sequencing	Read depth and paired-end mapping	Heterozygous	2,934
essv11807464	copy number loss	SAMN00001241	Sequencing	Read depth and paired-end mapping	Heterozygous	2,849
essv11807465	copy number loss	SAMN00001262	Sequencing	Read depth and paired-end mapping	Heterozygous	2,878
essv11807466	copy number loss	SAMN00001284	Sequencing	Read depth and paired-end mapping	Heterozygous	2,891
essv11807467	copy number loss	SAMN00007888	Sequencing	Read depth and paired-end mapping	Heterozygous	2,782
essv11807468	copy number loss	SAMN00007959	Sequencing	Read depth and paired-end mapping	Heterozygous	2,683
essv11807469	copy number loss	SAMN00007960	Sequencing	Read depth and paired-end mapping	Heterozygous	2,602
essv11807470	copy number loss	SAMN00007967	Sequencing	Read depth and paired-end mapping	Heterozygous	2,562
essv11807471	copy number gain	SAMN01761250	Sequencing	Read depth and paired-end mapping	Heterozygous	3,382

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv11807433	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807434	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807435	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807436	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807437	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807438	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807439	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807440	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807441	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807442	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807443	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807444	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807445	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807446	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807447	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807448	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807449	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807450	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807451	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807452	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807453	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807454	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807455	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807456	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807457	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807458	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807459	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807460	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807461	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807462	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807463	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807464	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807465	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807466	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807467	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807468	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807469	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807470	Remapped	Perfect	NC_000005.10:g.990 1083_9924233del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807471	Remapped	Perfect	NC_000005.10:g.990 1083_9924233dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,901,083	9,924,233
essv11807433	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807434	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807435	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807436	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807437	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807438	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807439	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807440	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807441	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807442	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807443	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807444	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807445	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807446	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807447	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807448	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807449	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807450	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807451	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807452	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807453	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807454	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807455	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807456	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807457	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807458	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807459	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807460	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807461	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807462	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807463	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807464	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807465	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807466	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807467	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807468	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807469	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807470	Submitted genomic		NC_000005.9:g.9901 195_9924345del	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345
essv11807471	Submitted genomic		NC_000005.9:g.9901 195_9924345dup	GRCh37 (hg19)		NC_000005.9	Chr5	9,901,195	9,924,345

dbVar

Database of genomic structural variation

esv3603986

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.