A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583197



Internal ID18711395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:80023441..80029380hg38UCSC Ensembl
Innerchr18:77783441..77789380hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg385940
hg195940
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1012e212
Supporting Variantsessv9816476, essv9816478, essv9816475
Samples401769CR, 400108BJ, 401497PR
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)esv3583197
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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