A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582671



Internal ID18710869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:89327530..89348058hg38UCSC Ensembl
Innerchr13:89979784..90000312hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg3820529
hg1920529
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9803981, essv9803982, essv9803976, essv9803975, essv9803984, essv9803983, essv9803985, essv9803980, essv9803979
Samples401956DQ, 400553PP, 400631SJ, 400773GS, 401495NR, 401477ST, 400654YW, 400053LE, 401315HK
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)esv3582671
Frequency
Sample Size873
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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