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dbVar

Database of genomic structural variation

esv3832285

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:10,462

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: 146 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):140,180,822-140,191,989

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3832285	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	140,181,230 (-408, +0)	140,191,691 (-0, +298)
esv3832285	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	139,900,072 (-408, +0)	139,910,533 (-0, +298)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv18511166	deletion	HG02164	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,390

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv18511166	Remapped	Perfect	NC_000003.12:g.(14 0180822_140181230) _(140191691_140191 989)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	140,181,230 (-408, +0)	140,191,691 (-0, +298)
essv18511166	Submitted genomic		NC_000003.11:g.(13 9899664_139900072) _(139910533_139910 831)del	GRCh37 (hg19)		NC_000003.11	Chr3	139,900,072 (-408, +0)	139,910,533 (-0, +298)

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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