A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575402



Internal ID18703600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16408174..16807330hg38UCSC Ensembl
Innerchr22:16888900..17288220hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38399157
hg19399321
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1276e212
Supporting Variantsessv9820653
Samples401353BC
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1, XKR3
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)esv3575402
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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