A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569455



Internal ID18697653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:62799449..62818771hg38UCSC Ensembl
Innerchr4:63665167..63684489hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3819323
hg1919323
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9771087, essv9771084, essv9771086, essv9771092, essv9771099, essv9771096, essv9771102, essv9771095, essv9771103, essv9771082, essv9771104, essv9771098, essv9771085, essv9771091, essv9771097, essv9771100, essv9771083, essv9771094, essv9771093
Samples400316SL, 400987FB, 401074CM, 401518VK, 401500OM, 402016HZ, 400353ML, 402029KJ, 400207HN, 401278DM, 401930GD, 400248JO, 401535RJ, 401057SS, 400671PP, 401295HB, 401786WD, 400084DM, 400021ME
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)esv3569455
Frequency
Sample Size873
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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