A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9790181



Internal ID18676490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:5106686..5216151hg38UCSC Ensembl
Innerchr9:5106686..5216151hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38109466
hg19109466
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576619
Supporting Variants
Samples401478RD
Known GenesINSL6, JAK2
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=125
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9790181
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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