A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996114



Internal ID6732058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123257046..123257896hg38UCSC Ensembl
Innerchr12:123741593..123742443hg19UCSC Ensembl
Innerchr12:122307546..122308396hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38851
hg19851
hg18851
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586956
SamplesHuRef
Known GenesC12orf65
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996114
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer