A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571431



Internal ID18352943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69943519..70243716hg38UCSC Ensembl
Innerchr16:69977422..70277619hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38300198
hg19300198
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv849e212
Supporting Variantsessv9811210
Samples400093BL
Known GenesCLEC18A, CLEC18C, LOC100506060, MIR1972-1, MIR1972-2, PDPR, PDXDC2P
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)esv3571431
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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