A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579784



Internal ID18707982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:86174419..86187713hg38UCSC Ensembl
Innerchr11:85885461..85898755hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3813295
hg1913295
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv398e212
Supporting Variantsessv9798464, essv9798461, essv9798459, essv9798462, essv9798465, essv9798463, essv9798460
Samples401742KB, 400949AM, 400033KC, 401832MC, 401898DS, 400581VJ, 401066MM
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)esv3579784
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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