A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992727



Internal ID7062220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97192912..97214221hg38UCSC Ensembl
Innerchr2:97858649..97879958hg19UCSC Ensembl
Innerchr2:97222376..97243685hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3821310
hg1921310
hg1821310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586268
SamplesHuRef
Known GenesANKRD36
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992727
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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