A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787875



Internal ID19163022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7847740..7910424hg38UCSC Ensembl
Innerchr12:8000336..8063020hg19UCSC Ensembl
Innerchr12:7891603..7954287hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3862685
hg1962685
hg1862685
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892130
Supporting Variants
Samples
Known GenesSLC2A14
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=19
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787875
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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