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dbVar

Database of genomic structural variation

esv3833893

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:9,730

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: 427 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):2,434,803-2,444,612

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3833893	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	2,434,843 (-40, +40)	2,444,572 (-40, +40)
esv3833893	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	2,436,570 (-40, +40)	2,446,299 (-40, +40)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv18708086	deletion	HG00343	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,020

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv18708086	Remapped	Perfect	NC_000004.12:g.(24 34803_2434883)_(24 44532_2444612)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	2,434,843 (-40, +40)	2,444,572 (-40, +40)
essv18708086	Submitted genomic		NC_000004.11:g.(24 36530_2436610)_(24 46259_2446339)del	GRCh37 (hg19)		NC_000004.11	Chr4	2,436,570 (-40, +40)	2,446,299 (-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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