A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9773617



Internal ID18311984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:187528921..188584766hg38UCSC Ensembl
Innerchr4:188450075..189505920hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg381055846
hg191055846
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3569882
Supporting Variants
Samples400953MR
Known GenesLINC01060, TRIML1, TRIML2, ZFP42
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
CommentsNumber of probes=768
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9773617
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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