A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789253



Internal ID18819613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:23397028..24290919hg38UCSC Ensembl
Innerchr13:23971167..24865057hg19UCSC Ensembl
Innerchr13:22869167..23763057hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38893892
hg19893891
hg18893891
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892311
Supporting Variants
Samples
Known GenesANKRD20A19P, C1QTNF9B, C1QTNF9B-AS1, LINC00327, MIPEP, MIR2276, SACS, SACS-AS1, SPATA13, SPATA13-AS1, TNFRSF19
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=332
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789253
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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