A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579364



Internal ID18707562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:10129033..10144899hg38UCSC Ensembl
Innerchr11:10150580..10166446hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3815867
hg1915867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv322e212
Supporting Variantsessv9796132
Samples400458LS
Known GenesSBF2
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)esv3579364
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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