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dbVar

Database of genomic structural variation

esv3632220

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:169,820

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: 1114 SVs from 89 studies. See in: genome view

Remapped(Score: Perfect):57,217,945-57,387,764

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3632220	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	57,217,945	57,387,764
esv3632220	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	57,792,079	57,961,898

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv14747568	copy number loss	SAMN00001241	Sequencing	Read depth and paired-end mapping	Heterozygous	2,849
essv14747569	copy number gain	SAMN00014326	Sequencing	Read depth and paired-end mapping	Heterozygous	2,747
essv14747570	copy number gain	SAMN00249681	Sequencing	Read depth and paired-end mapping	Heterozygous	2,621

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv14747568	Remapped	Perfect	NC_000013.11:g.572 17945_57387764del	GRCh38.p12	First Pass	NC_000013.11	Chr13	57,217,945	57,387,764
essv14747569	Remapped	Perfect	NC_000013.11:g.572 17945_57387764dup	GRCh38.p12	First Pass	NC_000013.11	Chr13	57,217,945	57,387,764
essv14747570	Remapped	Perfect	NC_000013.11:g.572 17945_57387764dup	GRCh38.p12	First Pass	NC_000013.11	Chr13	57,217,945	57,387,764
essv14747568	Submitted genomic		NC_000013.10:g.577 92079_57961898del	GRCh37 (hg19)		NC_000013.10	Chr13	57,792,079	57,961,898
essv14747569	Submitted genomic		NC_000013.10:g.577 92079_57961898dup	GRCh37 (hg19)		NC_000013.10	Chr13	57,792,079	57,961,898
essv14747570	Submitted genomic		NC_000013.10:g.577 92079_57961898dup	GRCh37 (hg19)		NC_000013.10	Chr13	57,792,079	57,961,898

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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