A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572621



Internal ID18354133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18989300..19005226hg38UCSC Ensembl
Innerchr8:18846810..18862736hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3815927
hg1915927
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2058e212
Supporting Variantsessv9787534
Samples400569WC
Known GenesPSD3
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)esv3572621
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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