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Table 4 Validation of ECA13 16 kb Deletion in Sample of Friesian Horses

From: Whole genome sequencing identified a 16 kilobase deletion on ECA13 associated with distichiasis in Friesian horses

  n Del/Del Ref/Del Ref/Ref
Cases 19 18 1 0
Controls 75 7 30 38
Unknown phenotype 201 21 88 92
  1. Del refers to the ECA13 16 kb deletion and Ref signifies detection of the reference allele.
  2. Genotyping for the deletion was completed through an allele specific PCR assay in the phenotyped cohort (n = 94) and in an additional sample set of horses that were not phenotyped for disease, which estimated the allele frequency to be 32.34%.