A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010164



Internal ID7074229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:31213160..31216955hg38UCSC Ensembl
Innerchr2:31436026..31439821hg19UCSC Ensembl
Innerchr2:31289530..31293325hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg383796
hg193796
hg183796
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586437
SamplesHuRef
Known GenesCAPN14
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010164
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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