A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569947



Internal ID18698145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:7322218..7329021hg38UCSC Ensembl
Innerchr5:7322331..7329134hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg386804
hg196804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9773986, essv9773993, essv9773990, essv9773992, essv9773988, essv9773994, essv9773995, essv9773985, essv9773991, essv9773987
Samples401674DD, 400191MP, 401454CD, 401862AN, 401981GF, 401112LG, 401391PJ, 400837HN, 401735LE, 400923OA
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)esv3569947
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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