A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584168



Internal ID18712366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:171117013..171126960hg38UCSC Ensembl
Innerchr2:171973523..171983470hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg389948
hg199948
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1186e212
Supporting Variantsessv9835790, essv9835787, essv9835786, essv9835789, essv9835791
Samples400191MP, 400793BR, 401870FB, 401016IT, 401268PS
Known GenesTLK1
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)esv3584168
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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