A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563586



Internal ID7036346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240292996..240302947hg38UCSC Ensembl
Outerchr2:241232413..241242364hg19UCSC Ensembl
Outerchr2:240881086..240891037hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg389952
hg199952
hg189952
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv993663
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563586
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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