A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582975



Internal ID18711173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12197857..12238851hg38UCSC Ensembl
Innerchr18:12197856..12238850hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3840995
hg1940995
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv974e212
Supporting Variantsessv9815474, essv9815475, essv9815473
Samples401498HH, 400348DK, 401694SG
Known GenesC18orf61
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)esv3582975
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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