A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583998



Internal ID18365510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105767281..105773234hg38UCSC Ensembl
Innerchr2:106383738..106389691hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg385954
hg195954
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1159e212
Supporting Variantsessv9834963, essv9834962, essv9834964
Samples401353BC, 401448BJ, 401397WN
Known GenesNCK2
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)esv3583998
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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