A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578582



Internal ID18360094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64940705..64944589hg38UCSC Ensembl
Innerchr1:65406388..65410272hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg383885
hg193885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9768223, essv9768189, essv9768156, essv9768201, essv9768145, essv9768212, essv9768178, essv9768167
Samples401026AM, 400249BC, 400733SW, 400737GC, 400032RC, 400728PB, 400870KC, 401856GC
Known GenesJAK1
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)esv3578582
Frequency
Sample Size873
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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