Table 3.

Genomic deletions and duplication identified by the assay

		Mutant sites identified by assay
Gene	Genomic event	Chromosome	Start^*	End^*	Size (bp)	Ratio^{^†}
BRCA1	Deletion exons 1–15	17	41,226,145	41,327,157	101,013	0.509
BRCA1	Duplication exon 13	17	41,230,562	41,235,836	5,275	1.578
BRCA1	Deletion exons 14–20	17	41,203,975	41,229,297	25,323	0.519
BRCA1	Deletion exon 17	17	41,219,596	41,219,755	160	0.495
BRCA2	Deletion exons 1–2	13	32,889,020	32,890,900	1,881	0.489
BRCA2	Deletion exon 21	13	32,950,734	32,952,070	1,337	0.544

↵*Breakpoints are flanked by Alu and other repeats, which are not captured.
↵^†Reads per base pair for deletion or duplication/reads per base pair for wild-type genotype.