A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9791604



Internal ID18315021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114324735..114335437hg38UCSC Ensembl
Innerchr9:117087015..117097717hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3810703
hg1910703
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576696
Supporting Variants
Samples401039PA
Known GenesAKNA, ORM1, ORM2
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=12
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9791604
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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