A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578521



Internal ID18360033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:244654938..244675197hg38UCSC Ensembl
Innerchr1:244818240..244838499hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3820260
hg1920260
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9809521
Samples401806DL
Known GenesDESI2
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)esv3578521
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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