A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985503



Internal ID12626241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52285116..52391735hg38UCSC Ensembl
Innerchr12:52678900..52785519hg19UCSC Ensembl
Innerchr12:50965167..51071786hg18UCSC Ensembl
Innerchr12:50965167..51071786hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38106620
hg19106620
hg18106620
hg17106620
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751105
Supporting Variants
SamplesBEC_361
Known GenesKRT81, KRT83, KRT84, KRT85, KRT86
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985503
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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