A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570095



Internal ID18698293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:44985224..45017533hg38UCSC Ensembl
Innerchr5:44985326..45017635hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3832310
hg1932310
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1596e212
Supporting Variantsessv9774602, essv9774595, essv9774592, essv9774588, essv9774596, essv9774603, essv9774582, essv9774598, essv9774601, essv9774590, essv9774584, essv9774587, essv9774599, essv9774586, essv9774597, essv9774583, essv9774594, essv9774591, essv9774585, essv9774593
Samples400247CL, 401640WJ, 400802DP, 401146US, 400083TG, 400277LM, 400509CJ, 401355CD, 400528LR, 401924ST, 402064DC, 400231LP, 400073HT, 401725MR, 401623SN, 400047DS, 401149VA, 401105WS, 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)esv3570095
Frequency
Sample Size873
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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