Table 1.
Candidate CNVs discovered in both patient cohorts with Illumina arrays
| Sample | Cytoband | Coordinates (hg19) | Length (bp) | Estimated Copy Number | Candidate Genes Within or Near CNV | qPCR-Verified CNV? |
|---|---|---|---|---|---|---|
| PG05 | 5q33.3 | 158899789-159627399 | 727611 | 3 | ADRA1B | yes |
| HLHS56 | 6p24.1 | 12306232-12320786 | 14555 | 1 | EDN1 | yes |
| HLHS24 | 11p15.4 | 10368614-10404266 | 35653 | 3 | ADM | yes |
| PG07 | 11q13.2-q13.3 | 68100519-69469069 | 1368551 | 3 | CPT1A, IGHMBP2 | yes |
| HLHS27, HLHS39 | 16q23.3 | 83196349-83209154 | 12806 | 1 | CDH13 | yes (39 only) |
| HLHS08 | 1q24.2 | 170560604-170613602 | 52999 | 1 | PRRX1 | not tested |
| HLHS57 | 2p21 | 45408893-45974339 | 565447 | 3 | PRKCE | not tested |
| HLHS22 | 3p22.3 | 32953920-32985486 | 31567 | 1 | TRIM71 | not tested |
| HLHS27 | 7q21.12 | 87524013-87656083 | 132071 | 3 | ADAM22 | not tested |
| HLHS44 | 9q21.32-q21.33 | 86881490-87359570 | 478081 | 3 | NTRK2 | not tested |
| PG16 | 15q26.1 | 90108613-90171306 | 62694 | 3 | KIF7 | not tested |
| HLHS23 | 16q12.2 | 56653745-56694878 | 41134 | 1 | MT1E, MT1F | not tested |
| HLHS44 | 17q12 | 32441969-32566206 | 124238 | 3 | ASIC2, CCL2 | not tested |
| HLHS23 | 21q21.3 | 27513837-28194874 | 681038 | 3 | APP | not tested |
| HLHS23 | 21q21.3 | 28202149-29000785 | 798637 | 3 | ADAMTS1, ADAMTS5 | not tested |
| HLHS41 | 21q22.2 | 41034215-41435172 | 400958 | 3 | DSCAM | not tested |
Note: The candidate gene(s) may not be the only gene(s) within or near the CNV.