A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9821789



Internal ID18694050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25330695..25526367hg38UCSC Ensembl
Innerchr22:25726662..25922334hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38195673
hg19195673
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575468
Supporting Variants
Samples401997HB
Known GenesCRYBB2P1, LRP5L, MIR6817
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=71
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9821789
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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