A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9822009



Internal ID18668168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:32073030..32383792hg38UCSC Ensembl
Innerchr22:32469017..32779779hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38310763
hg19310763
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575476
Supporting Variants
Samples401246HH
Known GenesAP1B1P1, C22orf42, LOC339666, RFPL2, RFPL3, RFPL3S, SLC5A1, SLC5A4
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=345
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9822009
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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