A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9797961



Internal ID18298631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55609022..55685110hg38UCSC Ensembl
Innerchr11:55376498..55452586hg19UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3876089
hg1976089
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3579675
Supporting Variants
Samples400553PP
Known GenesOR4C6, OR4P4, OR4S2
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
CommentsNumber of probes=89
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9797961
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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