A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9787425



Internal ID18289093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18953252..18956552hg38UCSC Ensembl
Innerchr8:18810762..18814062hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg383301
hg193301
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3572614
Supporting Variants
Samples400277LM
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
CommentsNumber of probes=8
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9787425
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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