A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578571



Internal ID18706769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:31777912..31780738hg38UCSC Ensembl
Innerchr11:31799460..31802286hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg382827
hg192827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv339e212
Supporting Variantsessv9796782
Samples401427CB
Known GenesELP4
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3578571
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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