A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986702



Internal ID12632415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52298689..52391735hg38UCSC Ensembl
Innerchr12:52692473..52785519hg19UCSC Ensembl
Innerchr12:50978740..51071786hg18UCSC Ensembl
Innerchr12:50978740..51071786hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3893047
hg1993047
hg1893047
hg1793047
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35152
Supporting Variants
SamplesNA12239
Known GenesKRT83, KRT84, KRT85, KRT86
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986702
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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