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dbVar

Database of genomic structural variation

esv3883989

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:21,548

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 183 SVs from 40 studies. See in: genome view

Remapped(Score: Perfect):46,260,253-46,282,800

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3883989	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	46,260,753 (-500, +0)	46,282,300 (-0, +500)
esv3883989	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	46,764,010 (-500, +0)	46,785,557 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24676566	deletion	HG01702	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,332

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24676566	Remapped	Perfect	NC_000019.10:g.(46 260253_46260753)_( 46282300_46282800) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	46,260,753 (-500, +0)	46,282,300 (-0, +500)
essv24676566	Submitted genomic		NC_000019.9:g.(467 63510_46764010)_(4 6785557_46786057)d el	GRCh37 (hg19)		NC_000019.9	Chr19	46,764,010 (-500, +0)	46,785,557 (-0, +500)

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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