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. 2007 Mar 15;14(1):1–11. doi: 10.1093/dnares/dsm002

Table 1.

Detection of known and validated submicroscopic copy-number variations onto high-density BAC, SNP and oligonucleotide microarrays

Patient Copy number Chromosome Size (Mb) No. of targets in region Average ratio targets in region Detected by HMMa
32k 100k 250k 385k 32k 100k 250k 385k 100k 250k 385k
BACs SNPs SNPs Oligos BACs SNPs SNPs Oligos SNPs SNPs Oligos
1 Loss 1 3.93 42 125 230 n.d. −0.41 −0.51 −0.45 n.d. Yes Yes n.d.
2 Gain 1 2.12 21 50 120 176 0.44 0.49 0.77 0.59 Yes Yes Yes
3 Loss 2 0.92 11 47 64 127 −0.59 −0.43 −0.52 −0.45 Yes Yes Yes
4 Gain 5 1.24 16 40 n.d. n.d. 0.29 0.30 n.d. n.d. Yes n.d. n.d.
5 Loss 7 0.35 18 1 13 30 −0.23 −0.52 −0.40 −0.24 No No Yes
6 Gain 9 0.23 5 23 38 40 0.35 0.30 0.47 0.27 Yes Yes Yes
7 Loss 9 2.85 30 145 320 n.d. −0.39 −0.45 −0.44 n.d. Yes Yes n.d.
8 Loss 9 0.54 6 22 70 88 −0.50 −0.44 −0.44 −0.37 Yes Yes Yes
9 Loss 11 9.15 80 551 923 1299 −0.35 −0.47 −0.47 −0.50 Yes Yes Yes
10 Gain 12 2.30 39 69 n.d. 353 0.32 0.26 n.d. 0.23 Yes n.d. Yes
11 Loss 15 1.65 16 4 40 204 −0.33 −0.36 −0.50 −0.35 No Yes Yes
12 Gain 17 2.89 28 64 151 420 0.37 0.26 0.46 0.29 Yes Yes Yes
12 Gain 17 1.43 14 18 91 198 0.36 0.19 0.44 0.31 Yes Yes Yes
12 Gain 17 2.88 30 205 279 442 0.41 0.29 0.45 0.28 Yes Yes Yes
12 Gain 17 1.48 24 21 64 189 0.33 0.26 0.52 0.31 Yes Yes Yes
13 Loss 22 2.66 35 36 130 306 −0.41 −0.47 −0.41 −0.23 Yes Yes Yes

aAll copy-number variations were initially detected by an automated HMM on the 32k BAC array.