A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583048



Internal ID18711246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:49418101..49426857hg38UCSC Ensembl
Innerchr18:46944471..46953227hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg388757
hg198757
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv985e212
Supporting Variantsessv9815685, essv9815686
Samples401182OC, 400942HR
Known GenesDYM
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)esv3583048
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer