A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1278e212



Internal ID20149734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17586154..17598370hg38UCSC Ensembl
chr22:18068920..18081136hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3812217
hg1912217
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568233, esv3568234
Samples402028BD, 401884WJ
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)dgv1278e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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