Table 1. .
Heritability of CNPs with a Continuous Distribution[Note]
| Population and Clone | Chromosome and hg16 Coordinatesa |
Dye-Swap R2 | ACNF | Narrow-Sense Heritability (h2±SE) |
| YRI: | ||||
| CTD-2046J21 | 1: 103532647–103647985 | .90 | .138 | 1.06 ± .21 |
| RP11-585N15 | 1: 16304321–16391174 | .66 | .249 | .97 ± .18 |
| CTD-2589H19b | 5: 662684–864137 | .87 | .424 | .86 ± .27 |
| RP11-837K1b | 5: 693297–873247 | .75 | .416 | .65 ± .25 |
| RP11-812N8b | 5: 779850–879258 | .69 | .313 | .90 ± .38 |
| RP11-262L1 | 7: 45058286–45214464 | .77 | .191 | .49 ± .55c |
| RP11-384C2 | 7: 142717297–142869087 | .62 | .141 | .83 ± .16 |
| RP11-45N9 | 7: 143297685–143451563 | .87 | .481 | .92 ± .24 |
| CTD-2142K23 | 8: 7238603–7341931 | .86 | .238 | .69 ± .19 |
| RP11-774P7 | 8: 7917017–8067760 | .92 | .328 | .73 ± .23 |
| RP11-138C5 | 15: 19199775–19364096 | .51 | .488 | 1.11 ± .23 |
| RP11-117M14 | 15: 19804700–19971720 | .71 | .401 | 1.20 ± .21 |
| RP11-351D6 | 17: 34930509–35010273 | .69 | .267 | 1.16 ± .19 |
| RP11-142H6 | 19: 8669454–8825625 | .87 | .463 | .61 ± .20 |
| RP11-775G6 | 22: 17102889–17244196 | .58 | .417 | 1.06 ± .27 |
| RP11-379N11 | 22: 19757625–19940794 | .80 | .402 | 1.20 ± .19 |
| CTD-2506I16 | 22: 20014749–20220783 | .61 | .246 | .83 ± .26 |
| CEU: | ||||
| CTD-2046J21 | 1: 103532647–103647985 | .69 | .138 | .92 ± .19 |
| RP11-1112O10 | 3: 196744968–196880879 | .72 | .186 | 1.20 ± .22 |
| CTD-2108J17 | 3: 196950243–197121995 | .70 | .183 | .84 ± .25 |
| CTD-2589H19b | 5: 662684–864137 | .62 | .424 | .32 ± .21c |
| RP11-837K1b | 5: 693297–873247 | .57 | .587 | .71 ± .21 |
| RP11-812N8b | 5: 779850–879258 | .50 | .691 | .15 ± .35c |
| RP11-24O14 | 5: 69417315–69562055 | .73 | .199 | .80 ± .19 |
| RP11-188C21 | 7: 101763594–101920490 | .59 | .117 | .50 ± .27c |
| CTD-3088N11b | 8: 7767399–7916838 | .83 | .282 | 1.08 ± .16 |
| RP11-774P7b | 8: 7917017–8067760 | .83 | .328 | .99 ± .19 |
| RP11-110H22 | 8: 86762305–86913434 | .72 | .111 | .95 ± .15 |
| CTD-2387G7 | 10: 48395333–48482422 | .79 | .062 | 1.02 ± .14 |
| RP11-138C5 | 15: 19199775–19364096 | .63 | .488 | .58 ± .19 |
| RP11-142H6 | 19: 8669454–8825625 | .82 | .463 | 1.05 ± .21 |
| CTD-3048O14 | 22: 16933331–17071291 | .51 | .172 | .90 ± .23 |
| RP11-775G6 | 22: 17102889–17244196 | .75 | .417 | .78 ± .23 |
| RP11-379N11 | 22: 19757625–19940794 | .73 | .404 | 1.10 ± .18 |
Note.— A subset of CNPs with continuously distributed copy-number measurements was tested for narrow-sense heritability, estimated by the slope of the regression line fitting offspring copy-number measurements to midparental (mean of the parents) copy-number measurements. Of the 34 analyzed CNPs, 30 (88%) demonstrated significant heritability in the CEU and YRI subpopulations. ACNF indicates the frequency at which this variant was found among all HapMap sample populations. The coefficient of determination (R2) was calculated from the dye-swap replicate data points of the BAC array hybridization data and is an indicator of reproducibility. Sites with R2<0.5 were removed from further analysis. Three further loci were also analyzed and showed narrow-sense heritability values <0 (data not shown). All three corresponded to the IGH and IGL gene clusters, which are known sites of somatic variation.2
Based on the hg16 reference sequence.
Overlapping BAC clones were analyzed independently.
BAC does not show significant heritability.