A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3587154



Internal ID6711850
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005547
Supporting Variants
SamplesHuRef
Known GenesKDM2B
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3587154
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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