A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584140



Internal ID18365652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:161740821..161746456hg38UCSC Ensembl
Innerchr2:162597331..162602966hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg385636
hg195636
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9835625
Samples400298ME
Known GenesSLC4A10
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)esv3584140
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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