A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568259



Internal ID18696457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19794435..19795981hg38UCSC Ensembl
Innerchr22:19781958..19783504hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381547
hg191547
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1288e212
Supporting Variantsessv9821118, essv9821115, essv9821121, essv9821112, essv9821113, essv9821125, essv9821128, essv9821127, essv9821124, essv9821116, essv9821126, essv9821119, essv9821114, essv9821117, essv9821120, essv9821123
Samples400634MP, 401602PR, 400360SM, 400743LS, 400411TG, 401655DC, 401477ST, 401278DM, 400705KK, 400430KV, 400654YW, 400454RE, 401608GE, 400376SJ, 402073LQ, 401154BR
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)esv3568259
Frequency
Sample Size873
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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