A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568364



Internal ID18349876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:32189600..32196477hg38UCSC Ensembl
Innerchr22:32585587..32592464hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg386878
hg196878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9822026, essv9822025
Samples400606HW, 400323AA
Known GenesRFPL2
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)esv3568364
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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