A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9798406



Internal ID18676869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:82950247..82961640hg38UCSC Ensembl
Innerchr11:82661289..82672682hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3811394
hg1911394
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3579927
Supporting Variants
Samples401490TL
Known Genes
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
CommentsNumber of probes=8
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9798406
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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