A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1646e212



Internal ID20150102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132698925..132708690hg38UCSC Ensembl
chr5:132034617..132044382hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg389766
hg199766
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3570419, esv3570418
Samples401749DJ, 400599CP, 400987FB, 401321CE, 401403TD, 401457WK, 400241CP, 400882DD, 400773GS, 401198TI, 401192MJ, 401913GT, 401067BD, 401334DH, 400072GR, 400152MR, 401068SD, 400645KM
Known GenesKIF3A
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)dgv1646e212
Frequency
Sample Size873
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer