A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34692



Internal ID12990728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7801455..7964477hg38UCSC Ensembl
Innerchr12:7954051..8117073hg19UCSC Ensembl
Innerchr12:7845318..8008340hg18UCSC Ensembl
Innerchr12:7845318..8008340hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38163023
hg19163023
hg18163023
hg17163023
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv58e55
Supporting Variantsessv6979750, essv6979749
SamplesNA18621
Known GenesSLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34692
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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