A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1596e212



Internal ID22784523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:44985224..45024586hg38UCSC Ensembl
chr5:44985326..45024688hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3839363
hg1939363
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3570098, esv3570095, esv3570099, esv3570096
Samples400247CL, 401640WJ, 400802DP, 401146US, 400083TG, 401931JL, 400277LM, 400509CJ, 401355CD, 400528LR, 401173AI, 400893ZE, 401924ST, 401792KR, 402064DC, 400231LP, 400073HT, 401725MR, 401623SN, 401862AN, 401513KC, 401942MP, 400047DS, 400069CN, 401149VA, 401105WS, 401781SL, 401254AE, 400234CA
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)dgv1596e212
Frequency
Sample Size873
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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