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dbVar

Database of genomic structural variation

esv3633079

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:25,270

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: 355 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):88,964,091-88,989,360

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3633079	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	88,964,091	88,989,360
esv3633079	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	89,616,345	89,641,614

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv14837075	copy number loss	SAMN01761392	Sequencing	Read depth and paired-end mapping	Heterozygous	2,213
essv14837076	copy number loss	SAMN01761581	Sequencing	Read depth and paired-end mapping	Heterozygous	2,794
essv14837077	copy number gain	SAMN00001607	Sequencing	Read depth and paired-end mapping	Heterozygous	2,740

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv14837075	Remapped	Perfect	NC_000013.11:g.889 64091_88989360del	GRCh38.p12	First Pass	NC_000013.11	Chr13	88,964,091	88,989,360
essv14837076	Remapped	Perfect	NC_000013.11:g.889 64091_88989360del	GRCh38.p12	First Pass	NC_000013.11	Chr13	88,964,091	88,989,360
essv14837077	Remapped	Perfect	NC_000013.11:g.889 64091_88989360dup	GRCh38.p12	First Pass	NC_000013.11	Chr13	88,964,091	88,989,360
essv14837075	Submitted genomic		NC_000013.10:g.896 16345_89641614del	GRCh37 (hg19)		NC_000013.10	Chr13	89,616,345	89,641,614
essv14837076	Submitted genomic		NC_000013.10:g.896 16345_89641614del	GRCh37 (hg19)		NC_000013.10	Chr13	89,616,345	89,641,614
essv14837077	Submitted genomic		NC_000013.10:g.896 16345_89641614dup	GRCh37 (hg19)		NC_000013.10	Chr13	89,616,345	89,641,614

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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