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dbVar

Database of genomic structural variation

esv3837539

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:84,831

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: 308 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):146,683,911-146,768,821

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3837539	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	146,683,951 (-40, +40)	146,768,781 (-40, +40)
esv3837539	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	147,605,103 (-40, +40)	147,689,933 (-40, +40)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv19168407	deletion	HG03439	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,090

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv19168407	Remapped	Perfect	NC_000004.12:g.(14 6683911_146683991) _(146768741_146768 821)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	146,683,951 (-40, +40)	146,768,781 (-40, +40)
essv19168407	Submitted genomic		NC_000004.11:g.(14 7605063_147605143) _(147689893_147689 973)del	GRCh37 (hg19)		NC_000004.11	Chr4	147,605,103 (-40, +40)	147,689,933 (-40, +40)

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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