A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586047



Internal ID6710743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52297319..52384988hg38UCSC Ensembl
Innerchr12:52691103..52778772hg19UCSC Ensembl
Innerchr12:50977370..51065039hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3887670
hg1987670
hg1887670
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv993310
Supporting Variants
SamplesHuRef
Known GenesKRT83, KRT84, KRT85, KRT86
MethodSNP array
AnalysisPooled samples.
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586047
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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