esv3588248

Organism: Homo sapiens

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

Variant Calls:19
Validation:Not tested
Clinical Assertions: No
Region Size:218,433

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: 1301 SVs from 85 studies. See in: genome view

Remapped(Score: Perfect):189,358,063-189,576,495

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3588248	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
esv3588248	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	189,327,193	189,545,625

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv10227067	copy number loss	SAMN00006493	Sequencing	Read depth and paired-end mapping	Heterozygous	2,552
essv10227068	copy number loss	SAMN00006550	Sequencing	Read depth and paired-end mapping	Heterozygous	2,675
essv10227069	copy number loss	SAMN00006553	Sequencing	Read depth and paired-end mapping	Heterozygous	2,674
essv10227070	copy number loss	SAMN00006558	Sequencing	Read depth and paired-end mapping	Heterozygous	2,730
essv10227071	copy number loss	SAMN00249813	Sequencing	Read depth and paired-end mapping	Heterozygous	2,821
essv10227072	copy number loss	SAMN00249905	Sequencing	Read depth and paired-end mapping	Heterozygous	2,795
essv10227073	copy number loss	SAMN00249916	Sequencing	Read depth and paired-end mapping	Heterozygous	2,779
essv10227074	copy number loss	SAMN00249919	Sequencing	Read depth and paired-end mapping	Heterozygous	2,763
essv10227075	copy number loss	SAMN00255145	Sequencing	Read depth and paired-end mapping	Heterozygous	2,478
essv10227076	copy number loss	SAMN00249856	Sequencing	Read depth and paired-end mapping	Heterozygous	2,571
essv10227077	copy number loss	SAMN00263040	Sequencing	Read depth and paired-end mapping	Heterozygous	2,809
essv10227078	copy number loss	SAMN00255153	Sequencing	Read depth and paired-end mapping	Heterozygous	2,835
essv10227079	copy number loss	SAMN00255156	Sequencing	Read depth and paired-end mapping	Heterozygous	2,795
essv10227080	copy number loss	SAMN00263066	Sequencing	Read depth and paired-end mapping	Heterozygous	2,831
essv10227081	copy number loss	SAMN00001600	Sequencing	Read depth and paired-end mapping	Heterozygous	2,596
essv10227082	copy number loss	SAMN00001604	Sequencing	Read depth and paired-end mapping	Heterozygous	2,741
essv10227083	copy number loss	SAMN00001650	Sequencing	Read depth and paired-end mapping	Heterozygous	2,209
essv10227084	copy number loss	SAMN00001658	Sequencing	Read depth and paired-end mapping	Heterozygous	2,595
essv10227085	copy number loss	SAMN00001661	Sequencing	Read depth and paired-end mapping	Heterozygous	2,531

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv10227067	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv10227068	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv10227069	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv10227070	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv10227071	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv10227072	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv10227073	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv10227074	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv10227075	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv10227076	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv10227077	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv10227078	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv10227079	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv10227080	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv10227081	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv10227082	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv10227083	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv10227084	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv10227085	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv10227067	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv10227068	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv10227069	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv10227070	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv10227071	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv10227072	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv10227073	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv10227074	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv10227075	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv10227076	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv10227077	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv10227078	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv10227079	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv10227080	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv10227081	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv10227082	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv10227083	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv10227084	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv10227085	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625

dbVar

Database of genomic structural variation

esv3588248

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.