A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571219



Internal ID18699417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55764219..55775541hg38UCSC Ensembl
Innerchr16:55798131..55809453hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3811323
hg1911323
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv833e212
Supporting Variantsessv9811026, essv9811036, essv9811027, essv9811030, essv9811024, essv9811028, essv9811031, essv9811033, essv9811035, essv9811025, essv9811034, essv9811029
Samples401927SK, 401857VG, 400453LN, 401030GI, 400241CP, 402038MR, 401443JK, 401087SF, 401203MP, 400246MG, 400581VJ, 400532MH
Known GenesCES1P1
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)esv3571219
Frequency
Sample Size873
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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