Accurate measurement of gene copy number for human alpha-defensin DEFA1A3

BMC Genomics

Table 3 Distribution of diploid copy numbers from 589 European samples typed in this work, and comparison with previous studies

DEFA1A3 copy number	This study (N = 589)	Observed frequency	Predicted frequency (HWE)	Reconstructed from
				Aldred (N = 111)	Linzmeier (N = 27)	Nuytten (N = 344)
≤3	1	0.002	0.004	0	0	0.006
4	28	0.048	0.045	0.027	0	0.037
5	69	0.117	0.129	0.144	0.037	0.192
6	117	0.199	0.177	0.261	0	0.372
7	121	0.205	0.215	0.243	0.111	0.257
8	129	0.219	0.205	0.198	0.111	0.087
9	64	0.109	0.113	0.108	0.111	0.043
10	37	0.063	0.085	0.009	0.259	0.006
11	13	0.022	0.017	0.009	0.074	0
12+	10	0.017	0.010	0	0.296	0

Distributions of diploid copy numbers in the 589 European samples typed in this work, and comparison with data taken or inferred from the previous studies of Aldred et al.[30], Linzmeier and Ganz [7], and Nuytten et al.[52]. The comparison is also made between the observed frequencies of copy number classes and those predicted from the haplotype frequencies determined in this study, assuming Hardy-Weinberg equilibrium (“Predicted frequency (HWE)”). The frequencies of copy number classes were not given explicitly by Nuytten et al.[52], but are reconstructed here from the data in their Figure seven (a). Jespersgaard et al.[47] do not give details of individual copy number counts, but instead give counts above or below a copy number of 6.

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