A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569182



Internal ID18350694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:189642954..189654175hg38UCSC Ensembl
Innerchr3:189360743..189371964hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3811222
hg1911222
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1438e212
Supporting Variantsessv9769217, essv9769216, essv9769218, essv9769219, essv9769215, essv9769213, essv9769214
Samples400920MK, 401956DQ, 401302LJ, 400553PP, 400425SL, 401873BK, 401423BA
Known GenesTP63
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)esv3569182
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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