A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573290



Internal ID18354802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:90803773..90808168hg38UCSC Ensembl
Innerchr9:93566055..93570450hg19UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg384396
hg194396
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9791175, essv9791179, essv9791177, essv9791176
Samples401958MF, 400937OR, 401922MW, 401634CH
Known GenesSYK
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)esv3573290
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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