A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004608



Internal ID6716731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52291976..52389052hg38UCSC Ensembl
Innerchr12:52685760..52782836hg19UCSC Ensembl
Innerchr12:50972027..51069103hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3897077
hg1997077
hg1897077
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv29e180
Supporting Variantsessv3586008
SamplesHuRef
Known GenesKRT83, KRT84, KRT85, KRT86
MethodSNP array
AnalysisPooled samples.
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004608
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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