A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9804273



Internal ID18280001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:99137911..99253291hg38UCSC Ensembl
Innerchr13:99790165..99905545hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38115381
hg19115381
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3582749
Supporting Variants
Samples400053LE
Known GenesMIR548AN, UBAC2, UBAC2-AS1
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
CommentsNumber of probes=102
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9804273
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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