Experimental Factor Ontology (EFO)
OWL
Last submission date April 15, 2025
ID http://www.ebi.ac.uk/efo/EFO_0030063
http://www.ebi.ac.uk/efo/EFO_0030063
https://agroportal.lirmm.fr/ontologies/EFO/EFO_0030063
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Preferred name

copy number assessment

Synonyms
copy number variation analysis genomic copy number assessment
Definitions
Assessment of the copy number of a genomic feature or region, referenced to the expected allele count in a given sample. Examples of an expected count would be: a) autosomal chromosome in human germline: 2; b) X-chromosome in human male: 1; c) triploid cancer cell line: 3, i.e. a region with 2 alleles in a triploid cell line would correspond to a low-level copy number loss. Result of genomic copy number assessment of a genomic element or region.
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