A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569389



Internal ID18350901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39285217..39300070hg38UCSC Ensembl
Innerchr4:39286837..39301690hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3814854
hg1914854
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1474e212
Supporting Variantsessv9770586
Samples400686BM
Known GenesMIR1273H, RFC1, WDR19
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)esv3569389
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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