esv3588247

Organism: Homo sapiens

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

Variant Calls:27
Validation:Not tested
Clinical Assertions: No
Region Size:218,479

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: 1303 SVs from 85 studies. See in: genome view

Remapped(Score: Perfect):189,356,574-189,575,569

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3588247	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
esv3588247	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv10227040	deletion	SAMN00006466	Sequencing	Read depth and paired-end mapping	Heterozygous	2,575
essv10227041	deletion	SAMN00006493	Sequencing	Read depth and paired-end mapping	Heterozygous	2,552
essv10227042	deletion	SAMN00006550	Sequencing	Read depth and paired-end mapping	Heterozygous	2,675
essv10227043	deletion	SAMN00006552	Sequencing	Read depth and paired-end mapping	Heterozygous	2,756
essv10227044	deletion	SAMN00006553	Sequencing	Read depth and paired-end mapping	Heterozygous	2,674
essv10227045	deletion	SAMN00006558	Sequencing	Read depth and paired-end mapping	Heterozygous	2,730
essv10227046	deletion	SAMN00249890	Sequencing	Read depth and paired-end mapping	Heterozygous	2,692
essv10227047	deletion	SAMN00249813	Sequencing	Read depth and paired-end mapping	Heterozygous	2,821
essv10227048	deletion	SAMN00249905	Sequencing	Read depth and paired-end mapping	Heterozygous	2,795
essv10227049	deletion	SAMN00249916	Sequencing	Read depth and paired-end mapping	Heterozygous	2,779
essv10227050	deletion	SAMN00249919	Sequencing	Read depth and paired-end mapping	Heterozygous	2,763
essv10227051	deletion	SAMN00255145	Sequencing	Read depth and paired-end mapping	Heterozygous	2,478
essv10227052	deletion	SAMN00249807	Sequencing	Read depth and paired-end mapping	Heterozygous	2,769
essv10227053	deletion	SAMN00249856	Sequencing	Read depth and paired-end mapping	Heterozygous	2,571
essv10227054	deletion	SAMN00249857	Sequencing	Read depth and paired-end mapping	Heterozygous	2,661
essv10227055	deletion	SAMN00263040	Sequencing	Read depth and paired-end mapping	Heterozygous	2,809
essv10227056	deletion	SAMN00255153	Sequencing	Read depth and paired-end mapping	Heterozygous	2,835
essv10227057	deletion	SAMN00255156	Sequencing	Read depth and paired-end mapping	Heterozygous	2,795
essv10227058	deletion	SAMN00263066	Sequencing	Read depth and paired-end mapping	Heterozygous	2,831
essv10227059	deletion	SAMN00001596	Sequencing	Read depth and paired-end mapping	Heterozygous	2,790
essv10227060	deletion	SAMN00001600	Sequencing	Read depth and paired-end mapping	Heterozygous	2,596
essv10227061	deletion	SAMN00001604	Sequencing	Read depth and paired-end mapping	Heterozygous	2,741
essv10227062	deletion	SAMN00000488	Sequencing	Read depth and paired-end mapping	Heterozygous	2,451
essv10227063	deletion	SAMN00001650	Sequencing	Read depth and paired-end mapping	Heterozygous	2,209
essv10227064	deletion	SAMN00001658	Sequencing	Read depth and paired-end mapping	Heterozygous	2,595
essv10227065	deletion	SAMN00001661	Sequencing	Read depth and paired-end mapping	Heterozygous	2,531
essv10227066	deletion	SAMN00000509	Sequencing	Read depth and paired-end mapping	Heterozygous	2,558

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv10227040	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227041	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227042	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227043	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227044	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227045	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227046	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227047	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227048	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227049	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227050	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227051	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227052	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227053	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227054	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227055	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227056	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227057	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227058	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227059	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227060	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227061	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227062	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227063	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227064	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227065	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227066	Remapped	Perfect	NC_000001.11:g.(18 9356574_189356831) _(189575309_189575 569)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,831 (-257, +0)	189,575,309 (-0, +260)
essv10227040	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227041	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227042	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227043	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227044	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227045	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227046	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227047	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227048	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227049	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227050	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227051	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227052	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227053	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227054	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227055	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227056	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227057	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227058	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227059	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227060	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227061	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227062	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227063	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227064	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227065	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)
essv10227066	Submitted genomic		NC_000001.10:g.(18 9325704_189325961) _(189544439_189544 699)del	GRCh37 (hg19)		NC_000001.10	Chr1	189,325,961 (-257, +0)	189,544,439 (-0, +260)

dbVar

Database of genomic structural variation

esv3588247

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.