A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576620



Internal ID18704818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:5106692..5228432hg38UCSC Ensembl
Innerchr9:5106692..5228432hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38121741
hg19121741
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2127e212
Supporting Variantsessv9790183
Samples400658BW
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3576620
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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