A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788200



Internal ID19167965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7884840..7949790hg38UCSC Ensembl
Innerchr12:8037436..8102386hg19UCSC Ensembl
Innerchr12:7928703..7993653hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3864951
hg1964951
hg1864951
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892132
Supporting Variants
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=17
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788200
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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