A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788820



Internal ID18834083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:23325488..23598910hg38UCSC Ensembl
Innerchr13:23899627..24173049hg19UCSC Ensembl
Innerchr13:22797627..23071049hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38273423
hg19273423
hg18273423
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892319
Supporting Variants
Samples
Known GenesLINC00327, SACS, SACS-AS1, TNFRSF19
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=74
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788820
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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