A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570563



Internal ID18698761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176011043..176050271hg38UCSC Ensembl
Innerchr5:175438046..175477274hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3839229
hg1939229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1668e212
Supporting Variantsessv9776857, essv9776850, essv9776859, essv9776861, essv9776854, essv9776851, essv9776856, essv9776852, essv9776858, essv9776862, essv9776860, essv9776853
Samples401110GJ, 401403TD, 401733CG, 400453LN, 401252AE, 400270BD, 401714BM, 401863BD, 400838AM, 401825TH, 401628GC, 400782IE
Known GenesLOC100996385
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)esv3570563
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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