A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573382



Internal ID18354894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:124047230..124053772hg38UCSC Ensembl
Innerchr9:126809509..126816051hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg386543
hg196543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9791639, essv9791642, essv9791640, essv9791641
Samples401420PJ, 401052BM, 400686BM, 400996MC
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)esv3573382
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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