A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25793073



Internal ID18822762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42681086..42901535hg38UCSC Ensembl
Innerchr13:43255222..43475671hg19UCSC Ensembl
Innerchr13:42153222..42373671hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38220450
hg19220450
hg18220450
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892334
Supporting Variants
Samples
Known GenesEPSTI1, FAM216B
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
CommentsNumber of probes=69
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25793073
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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