A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1288e212



Internal ID20149744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19794300..19795982hg38UCSC Ensembl
chr22:19781823..19783505hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381683
hg191683
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568259, esv3568261, esv3568262
Samples400654YW, 400789KV, 400705KK, 400454RE, 401602PR, 400376SJ, 400911GA, 400360SM, 400743LS, 401477ST, 400411TG, 401278DM, 401655DC, 400634MP, 401154BR, 401608GE, 400430KV, 402073LQ
Known GenesGNB1L
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)dgv1288e212
Frequency
Sample Size873
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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