A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568270



Internal ID18696468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19963847..19966728hg38UCSC Ensembl
Innerchr22:19951370..19954251hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382882
hg192882
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9821154, essv9821169, essv9821164, essv9821163, essv9821168, essv9821162, essv9821165, essv9821161, essv9821160, essv9821157, essv9821167, essv9821153, essv9821156, essv9821158, essv9821159
Samples400649PS, 400926LJ, 401489CB, 400641WJ, 400893ZE, 400606HW, 401687LR, 400186WC, 401873BK, 400082SD, 400686BM, 400571WV, 401894PD, 400586RD, 400255CD
Known GenesCOMT
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)esv3568270
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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