A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788008



Internal ID18821561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195730982..195860385hg38UCSC Ensembl
Innerchr3:195457853..195587256hg19UCSC Ensembl
Innerchr3:196943524..197071653hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38129404
hg19129404
hg18128130
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893850
Supporting Variants
Samples
Known GenesMUC20, MUC4
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=31
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788008
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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