Table 2.

Genomic features at the chromosomal breakpoint regions in FA somatic rearrangements

GF	% of BPi overlapping with the GF	% of the genome overlapping with the GF	Ratio BPi/genome	P
SDs	8.2	519	1.6	.56
CNVs	65.1	77.9 (DGV)	0.8	.059
Genes	64.3	27.520	2.3	5.2 × 10−7
MRH	7.5	6.3 (HapMap database)	1.1	.78

From left to right, this table shows genomic features whose overlap was studied in FA BPis. The total length of the defined BPis was obtained in order to calculate the global percentage overlapping with each feature. The proportion (%) of BPis overlapping with each genomic feature (column 2) was compared with the genomic proportion of the feature reported in the literature (column 3) to detect an increased or decreased overlapping with respect to the expected rate (column 4). We detected a statistically significant enrichment of genes in FA BPis.

BPi, breakpoint interval; GF, genomic feature; DGV, Database of Genomic Variants (http://dgv.tcag.ca/dgv/app/home).