A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986742



Internal ID12979299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7801455..7982073hg38UCSC Ensembl
Innerchr12:7954051..8134669hg19UCSC Ensembl
Innerchr12:7845318..8025936hg18UCSC Ensembl
Innerchr12:7845318..8025936hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38180619
hg19180619
hg18180619
hg17180619
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34839
Supporting Variants
SamplesNA12760
Known GenesSLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986742
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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