A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568229



Internal ID18349741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17574659..17596669hg38UCSC Ensembl
Innerchr22:18054724..18079435hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3822011
hg1924712
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9820703, essv9820700, essv9820702, essv9820701, essv9820704
Samples401361GG, 401694SG, 400994HJ, 401252AE, 401254AE
Known GenesATP6V1E1, SLC25A18
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)esv3568229
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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