A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578240



Internal ID18359752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:168011624..168019339hg38UCSC Ensembl
Innerchr1:167980862..167988577hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg387716
hg197716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv111e212
Supporting Variantsessv9794077, essv9794089, essv9794066
Samples401251WN, 402001SR, 401510DG
Known GenesDCAF6
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)esv3578240
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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