A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583994



Internal ID18365506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105349519..105357280hg38UCSC Ensembl
Innerchr2:105965976..105973737hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg387762
hg197762
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9834798, essv9834796, essv9834793, essv9834794, essv9834800, essv9834795, essv9834797
Samples400908PJ, 400199SA, 400620MT, 400416KA, 401870FB, 400371GA, 400494ML
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)esv3583994
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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