A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569558



Internal ID18351070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86054928..86058778hg38UCSC Ensembl
Innerchr4:86976081..86979931hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg383851
hg193851
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1508e212
Supporting Variantsessv9771890, essv9771884, essv9771886, essv9771881, essv9771908, essv9771893, essv9771897, essv9771892, essv9771904, essv9771882, essv9771906, essv9771883, essv9771905, essv9771894, essv9771914, essv9771910, essv9771903, essv9771888, essv9771885, essv9771912, essv9771887, essv9771899, essv9771891, essv9771901, essv9771902, essv9771895, essv9771896, essv9771909, essv9771913, essv9771915, essv9771907, essv9771898
Samples400424LN, 400618GC, 401074CM, 401911FL, 401299ST, 401183HP, 400506GN, 401427CB, 401856GC, 401582GG, 400658BW, 400882DD, 400032RC, 400270BD, 400265LK, 400047DS, 400639RP, 400248JO, 400319HT, 400474GF, 400177CG, 401334DH, 401287CF, 401438HT, 401543DC, 400266BA, 400150SS, 402024BB, 400890IT, 400243CK, 400782IE, 401497PR
Known GenesMAPK10
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)esv3569558
Frequency
Sample Size873
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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