A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580309



Internal ID18708507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:69105080..69116573hg38UCSC Ensembl
Innerchr12:69498860..69510353hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3811494
hg1911494
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9801468, essv9801476, essv9801472, essv9801480, essv9801463, essv9801470, essv9801483, essv9801482, essv9801466, essv9801475, essv9801473, essv9801481, essv9801464, essv9801469, essv9801479, essv9801465, essv9801474, essv9801471, essv9801477
Samples401956DQ, 401972BA, 400241CP, 402062KR, 400338SR, 400206SC, 400843FL, 401717LP, 400242TP, 400869BK, 401580CA, 400611GG, 400770MA, 400156WT, 400295PS, 401054VM, 402048WB, 402042BJ, 400164SS
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)esv3580309
Frequency
Sample Size873
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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