A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568971



Internal ID18697169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:118239939..118256308hg38UCSC Ensembl
Innerchr3:117958786..117975155hg19UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg3816370
hg1916370
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1402e212
Supporting Variantsessv9768028, essv9768033, essv9768037, essv9768032, essv9768029, essv9768036, essv9768026, essv9768025, essv9768035, essv9768039, essv9768031, essv9768038, essv9768022, essv9768024, essv9768030, essv9768027
Samples401465TB, 400802DP, 400634MP, 401819BS, 401275SJ, 400429YF, 401249TP, 400629BM, 400077EB, 400227MM, 401538NS, 400960TN, 400108BJ, 401554VN, 400540BM, 400782IE
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)esv3568971
Frequency
Sample Size873
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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