A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579986



Internal ID18361498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:132925271..132930613hg38UCSC Ensembl
Innerchr11:132795166..132800508hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg385343
hg195343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9799231, essv9799232
Samples400705KK, 401437MJ
Known GenesOPCML
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)esv3579986
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