A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580770



Internal ID18708968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:75493997..75500429hg38UCSC Ensembl
Innerchr13:76068133..76074565hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg386433
hg196433
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9803827, essv9803826, essv9803825
Samples401503MJ, 400526DR, 401111LH
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)esv3580770
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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