A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791605



Internal ID18835514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:92937463..94196357hg38UCSC Ensembl
Innerchr13:93589716..94848611hg19UCSC Ensembl
Innerchr13:92387717..93646612hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg381258895
hg191258896
hg181258896
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892424
Supporting Variants
Samples
Known GenesGPC6, GPC6-AS1, GPC6-AS2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=297
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791605
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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