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dbVar

Database of genomic structural variation

esv3622956

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:157,995

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: 528 SVs from 62 studies. See in: genome view

Remapped(Score: Perfect):37,440,034-37,598,028

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3622956	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	37,440,034	37,598,028
esv3622956	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	37,728,962	37,886,956

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv13756803	copy number loss	SAMN00006454	Sequencing	Read depth and paired-end mapping	Heterozygous	2,876
essv13756804	copy number gain	SAMN00780015	Sequencing	Read depth and paired-end mapping	Heterozygous	2,784

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv13756803	Remapped	Perfect	NC_000010.11:g.374 40034_37598028del	GRCh38.p12	First Pass	NC_000010.11	Chr10	37,440,034	37,598,028
essv13756804	Remapped	Perfect	NC_000010.11:g.374 40034_37598028dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	37,440,034	37,598,028
essv13756803	Submitted genomic		NC_000010.10:g.377 28962_37886956del	GRCh37 (hg19)		NC_000010.10	Chr10	37,728,962	37,886,956
essv13756804	Submitted genomic		NC_000010.10:g.377 28962_37886956dup	GRCh37 (hg19)		NC_000010.10	Chr10	37,728,962	37,886,956

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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