A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579781



Internal ID18707979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:86174419..86188634hg38UCSC Ensembl
Innerchr11:85885461..85899676hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3814216
hg1914216
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv398e212
Supporting Variantsessv9798470, essv9798472, essv9798478, essv9798469, essv9798467, essv9798473, essv9798471, essv9798476, essv9798474, essv9798479, essv9798468, essv9798475
Samples400432VA, 400866RR, 400298ME, 401239PR, 400583HS, 401538NS, 400502GS, 400041LJ, 400211BJ, 402074RR, 401166WJ, 401607LL
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)esv3579781
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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