A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568246



Internal ID18696444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18932457..18949868hg38UCSC Ensembl
Innerchr22:18919970..18937381hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3817412
hg1917412
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9820884, essv9820886, essv9820883, essv9820885
Samples401536BD, 400729HC, 401333MM, 400671PP
Known GenesPRODH
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)esv3568246
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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