A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579899



Internal ID18361411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:106914749..106919850hg38UCSC Ensembl
Innerchr11:106785475..106790576hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg385102
hg195102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9798820, essv9798822
Samples400238BB, 400364SS
Known GenesGUCY1A2
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)esv3579899
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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