A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582400



Internal ID18363912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83229619..83231746hg38UCSC Ensembl
Innerchr16:83263224..83265351hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg382128
hg192128
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9811980, essv9811981
Samples400502GS, 400763BT
Known GenesCDH13
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)esv3582400
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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