A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9812032



Internal ID18322779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83437178..83441498hg38UCSC Ensembl
Innerchr16:83470783..83475103hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg384321
hg194321
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3582408
Supporting Variants
Samples401277RA
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
CommentsNumber of probes=8
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9812032
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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