A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570341



Internal ID18698539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111280839..111294405hg38UCSC Ensembl
Innerchr5:110616537..110630103hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3813567
hg1913567
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9775840, essv9775836, essv9775839, essv9775837, essv9775847, essv9775841, essv9775846, essv9775849, essv9775848, essv9775845, essv9775838, essv9775843, essv9775842
Samples401749DJ, 400802DP, 401498HH, 400199SA, 400929MM, 400041LJ, 400103BN, 400501SJ, 401438HT, 400859SC, 401153HS, 400178RH, 401180GR
Known GenesCAMK4
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)esv3570341
Frequency
Sample Size873
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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