A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579923



Internal ID18361435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:118193687..118204244hg38UCSC Ensembl
Innerchr11:118064402..118074959hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3810558
hg1910558
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9798870, essv9798869
Samples401706BJ, 401318AV
Known GenesAMICA1
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)esv3579923
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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