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dbVar

Database of genomic structural variation

esv3612781

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:70,355

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: 216 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):33,953,157-34,023,511

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3612781	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	33,953,157	34,023,511
esv3612781	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	33,992,769	34,063,123

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv12723746	copy number loss	SAMN00004666	Sequencing	Read depth and paired-end mapping	Heterozygous	2,758
essv12723747	copy number gain	SAMN00004687	Sequencing	Read depth and paired-end mapping	Heterozygous	2,776

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv12723746	Remapped	Perfect	NC_000007.14:g.339 53157_34023511del	GRCh38.p12	First Pass	NC_000007.14	Chr7	33,953,157	34,023,511
essv12723747	Remapped	Perfect	NC_000007.14:g.339 53157_34023511dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	33,953,157	34,023,511
essv12723746	Submitted genomic		NC_000007.13:g.339 92769_34063123del	GRCh37 (hg19)		NC_000007.13	Chr7	33,992,769	34,063,123
essv12723747	Submitted genomic		NC_000007.13:g.339 92769_34063123dup	GRCh37 (hg19)		NC_000007.13	Chr7	33,992,769	34,063,123

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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