A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568389



Internal ID18696587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:37346938..37354614hg38UCSC Ensembl
Innerchr22:37742979..37750654hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg387677
hg197676
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9822119, essv9822122, essv9822120
Samples400955BE, 400930MK, 400138LA
Known Genes
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)esv3568389
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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