A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993544



Internal ID6729501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52294294..52389312hg38UCSC Ensembl
Innerchr12:52688078..52783096hg19UCSC Ensembl
Innerchr12:50974345..51069363hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3895019
hg1995019
hg1895019
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv29e180
Supporting Variantsessv3586785
SamplesHuRef
Known GenesKRT83, KRT84, KRT85, KRT86
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993544
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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