A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9797631



Internal ID18338261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55595851..55685488hg38UCSC Ensembl
Innerchr11:55363327..55452964hg19UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3889638
hg1989638
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3579654
Supporting Variants
Samples401742KB
Known GenesOR4C11, OR4C6, 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=103
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9797631
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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