A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568440



Internal ID18696638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44817332..44821634hg38UCSC Ensembl
Innerchr22:45213212..45217514hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg384303
hg194303
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1326e212
Supporting Variantsessv9822362, essv9822363
Samples401975VD, 401391PJ
Known GenesARHGAP8, PRR5-ARHGAP8
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)esv3568440
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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