A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv29e180



Internal ID6310811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52685760..52783293hg19UCSC Ensembl
chr12:50972027..51069560hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsesv993544, esv993310, esv1004608, esv992078
SamplesHuRef
Known GenesKRT83, KRT84, KRT85, KRT86
Method
Analysis
Platform
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)dgv29e180
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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