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dbVar

Database of genomic structural variation

esv3611508

Organism: Homo sapiens

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

Variant Calls:8
Validation:Not tested
Clinical Assertions: No
Region Size:39,474

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: 1344 SVs from 89 studies. See in: genome view

Remapped(Score: Perfect):162,291,394-162,330,867

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3611508	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	162,291,394	162,330,867
esv3611508	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	162,712,426	162,751,899

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv12620939	copy number loss	SAMN00016968	Sequencing	Read depth and paired-end mapping	Heterozygous	2,820
essv12620940	copy number loss	SAMN00006508	Sequencing	Read depth and paired-end mapping	Heterozygous	2,890
essv12620941	copy number loss	SAMN00009116	Sequencing	Read depth and paired-end mapping	Heterozygous	2,761
essv12620942	copy number loss	SAMN01091068	Sequencing	Read depth and paired-end mapping	Heterozygous	2,646
essv12620943	copy number loss	SAMN01036782	Sequencing	Read depth and paired-end mapping	Heterozygous	3,182
essv12620944	copy number loss	SAMN00000533	Sequencing	Read depth and paired-end mapping	Heterozygous	2,590
essv12620945	copy number gain	SAMN01090895	Sequencing	Read depth and paired-end mapping	Heterozygous	3,051
essv12620946	copy number gain	SAMN00001300	Sequencing	Read depth and paired-end mapping	Heterozygous	2,814

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv12620939	Remapped	Perfect	NC_000006.12:g.162 291394_162330867de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,291,394	162,330,867
essv12620940	Remapped	Perfect	NC_000006.12:g.162 291394_162330867de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,291,394	162,330,867
essv12620941	Remapped	Perfect	NC_000006.12:g.162 291394_162330867de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,291,394	162,330,867
essv12620942	Remapped	Perfect	NC_000006.12:g.162 291394_162330867de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,291,394	162,330,867
essv12620943	Remapped	Perfect	NC_000006.12:g.162 291394_162330867de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,291,394	162,330,867
essv12620944	Remapped	Perfect	NC_000006.12:g.162 291394_162330867de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,291,394	162,330,867
essv12620945	Remapped	Perfect	NC_000006.12:g.162 291394_162330867du p	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,291,394	162,330,867
essv12620946	Remapped	Perfect	NC_000006.12:g.162 291394_162330867du p	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,291,394	162,330,867
essv12620939	Submitted genomic		NC_000006.11:g.162 712426_162751899de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,712,426	162,751,899
essv12620940	Submitted genomic		NC_000006.11:g.162 712426_162751899de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,712,426	162,751,899
essv12620941	Submitted genomic		NC_000006.11:g.162 712426_162751899de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,712,426	162,751,899
essv12620942	Submitted genomic		NC_000006.11:g.162 712426_162751899de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,712,426	162,751,899
essv12620943	Submitted genomic		NC_000006.11:g.162 712426_162751899de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,712,426	162,751,899
essv12620944	Submitted genomic		NC_000006.11:g.162 712426_162751899de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,712,426	162,751,899
essv12620945	Submitted genomic		NC_000006.11:g.162 712426_162751899du p	GRCh37 (hg19)		NC_000006.11	Chr6	162,712,426	162,751,899
essv12620946	Submitted genomic		NC_000006.11:g.162 712426_162751899du p	GRCh37 (hg19)		NC_000006.11	Chr6	162,712,426	162,751,899

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.

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