A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787930



Internal ID19181978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7847740..7923089hg38UCSC Ensembl
Innerchr12:8000336..8075685hg19UCSC Ensembl
Innerchr12:7891603..7966952hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3875350
hg1975350
hg1875350
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892130
Supporting Variants
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=24
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787930
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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