A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583475



Internal ID18364987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51306719..51319077hg38UCSC Ensembl
Innerchr19:51809973..51822331hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3812359
hg1912359
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1060e212
Supporting Variantsessv9817804, essv9817790, essv9817791, essv9817795, essv9817792, essv9817793, essv9817798, essv9817797, essv9817803, essv9817809, essv9817807, essv9817796, essv9817806, essv9817794, essv9817802, essv9817808, essv9817805, essv9817799, essv9817801
Samples400599CP, 400739SS, 401117NA, 401299ST, 400866RR, 401899MB, 400606HW, 401834CB, 401804FG, 400082SD, 400994HJ, 401084BD, 401087SF, 400135DR, 400930MK, 400323AA, 400130HA, 401040KM, 400238BB
Known GenesIGLON5
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)esv3583475
Frequency
Sample Size873
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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