A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571208



Internal ID18699406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55764219..55770870hg38UCSC Ensembl
Innerchr16:55798131..55804782hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg386652
hg196652
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv837e212
Supporting Variantsessv9811017, essv9811014, essv9811016, essv9811018, essv9811015, essv9811013
Samples400834SS, 401423BA, 400315DA, 400213DB, 400091BS, 401207DA
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)esv3571208
Frequency
Sample Size873
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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