A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573351



Internal ID18701549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:110229056..110237933hg38UCSC Ensembl
Innerchr9:112991336..113000213hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg388878
hg198878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2178e212
Supporting Variantsessv9791424, essv9791421, essv9791420
Samples401914PR, 400818BL, 400108BJ
Known Genes
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)esv3573351
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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