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dbVar

Database of genomic structural variation

esv3586622

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:4,734

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: 125 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):81,887,909-81,892,642

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3586622	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	81,887,909	81,892,642
esv3586622	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	82,353,594	82,358,327

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv9993532	duplication	SAMN01091010	Sequencing	Read depth and paired-end mapping	Heterozygous	2,708
essv9993533	duplication	SAMN01090999	Sequencing	Read depth and paired-end mapping	Heterozygous	2,741

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv9993532	Remapped	Perfect	NC_000001.11:g.818 87909_81892642dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	81,887,909	81,892,642
essv9993533	Remapped	Perfect	NC_000001.11:g.818 87909_81892642dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	81,887,909	81,892,642
essv9993532	Submitted genomic		NC_000001.10:g.823 53594_82358327dup	GRCh37 (hg19)		NC_000001.10	Chr1	82,353,594	82,358,327
essv9993533	Submitted genomic		NC_000001.10:g.823 53594_82358327dup	GRCh37 (hg19)		NC_000001.10	Chr1	82,353,594	82,358,327

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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