A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582102



Internal ID18363614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:23923927..23930923hg38UCSC Ensembl
Innerchr16:23935248..23942244hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg386997
hg196997
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv808e212
Supporting Variantsessv9810456, essv9810453, essv9810452, essv9810451, essv9810454
Samples400105BB, 400141CC, 401402EN, 400658BW, 400150SS
Known GenesPRKCB
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)esv3582102
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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