A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584298



Internal ID18712496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211099104..211105956hg38UCSC Ensembl
Innerchr2:211963828..211970680hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg386853
hg196853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1204e212
Supporting Variantsessv9836693, essv9836697, essv9836690, essv9836685, essv9836691, essv9836695, essv9836692, essv9836688, essv9836696, essv9836689, essv9836699, essv9836694, essv9836686
Samples400570RW, 400789KV, 401368WR, 400588BE, 400773GS, 400127MD, 401393JW, 401771OS, 400844GP, 400458LS, 401295HB, 400410CD, 401215MJ
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)esv3584298
Frequency
Sample Size873
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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