A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv391e212



Internal ID20148847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60455519..60463836hg38UCSC Ensembl
chr11:60222992..60231309hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg388318
hg198318
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3579732, esv3579731
Samples401474CE, 401932GN
Known GenesMS4A1
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)dgv391e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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