A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005547



Internal ID6717667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121514607..121515553hg38UCSC Ensembl
Innerchr12:121952410..121953356hg19UCSC Ensembl
Innerchr12:120436793..120437739hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38947
hg19947
hg18947
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3587154
SamplesHuRef
Known GenesKDM2B
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005547
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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