A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9791621



Internal ID18321215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:116559083..116722034hg38UCSC Ensembl
Innerchr9:119321362..119484313hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg38162952
hg19162952
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3573372
Supporting Variants
Samples401238QR
Known GenesASTN2, LOC100128505, TRIM32
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=212
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9791621
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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