A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582956



Internal ID18711154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:5872908..5876630hg38UCSC Ensembl
Innerchr18:5872907..5876629hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg383723
hg193723
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9815440, essv9815437, essv9815438, essv9815442, essv9815443, essv9815439, essv9815436, essv9815441
Samples401518VK, 401857VG, 401500OM, 400606HW, 400352CA, 401119DK, 400724CD, 400168HC
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)esv3582956
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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