A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579371



Internal ID18360883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:12372526..12379600hg38UCSC Ensembl
Innerchr11:12394073..12401147hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg387075
hg197075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9796179
Samples400743LS
Known GenesPARVA
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)esv3579371
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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