A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575419



Internal ID18356931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18166100..19017223hg38UCSC Ensembl
Innerchr22:18648867..19004736hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38851124
hg19355870
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1283e212
Supporting Variantsessv9820858
Samples400949AM
Known GenesDGCR5, DGCR6, GGT3P, PRODH, USP18
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)esv3575419
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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