A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892424



Internal ID18836558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:92937463..94192489hg38UCSC Ensembl
Outerchr13:92937463..94196357hg38UCSC Ensembl
Innerchr13:93589716..94844743hg19UCSC Ensembl
Outerchr13:93589716..94848611hg19UCSC Ensembl
Innerchr13:92387717..93642744hg18UCSC Ensembl
Outerchr13:92387717..93646612hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg381258895
hg191258896
hg181258896
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791756, essv25791605
Samples
Known GenesGPC6, GPC6-AS1, GPC6-AS2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892424
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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