A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569748



Internal ID18351260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:150954846..150960233hg38UCSC Ensembl
Innerchr4:151875998..151881385hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg385388
hg195388
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9772745, essv9772743, essv9772742
Samples401307VR, 401347DH, 400886MP
Known GenesLRBA
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)esv3569748
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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