A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992078



Internal ID6728041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52294748..52389509hg38UCSC Ensembl
Innerchr12:52688532..52783293hg19UCSC Ensembl
Innerchr12:50974799..51069560hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3894762
hg1994762
hg1894762
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv29e180
Supporting Variantsessv3586759
SamplesHuRef
Known GenesKRT83, KRT84, KRT85, KRT86
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992078
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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