A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575414



Internal ID18703612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18929330..19017259hg38UCSC Ensembl
Innerchr22:18916843..19004772hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3887930
hg1987930
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1284e212
Supporting Variantsessv9820870, essv9820878, essv9820873, essv9820876, essv9820875
Samples401457WK, 401990PR, 401853WR, 400213DB, 401836SI
Known GenesDGCR5, PRODH
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)esv3575414
Frequency
Sample Size873
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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