A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv362e212



Internal ID20148818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:54934036..55606519hg38UCSC Ensembl
chr11:54701512..55373995hg19UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38672484
hg19672484
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3579205, esv3579227
Samples401454CD, 400671PP
Known GenesOR4A15, OR4A16, OR4C11, OR4C15, OR4C16, TRIM48, TRIM51HP
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)dgv362e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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