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Table 2 Comparing DEFA1A3 haplotype class with features of the locus in individuals with European ancestry

From: Inferring mechanisms of copy number change from haplotype structures at the human DEFA1A3 locus

Haplotype class

DEFA1A3copy number

DEFA3frequency

Indel5 insertion frequency

7 bp duplication frequency

Reference Sequence

6×10-26; high

1×10-7; high

2×10-5; low

3×10-11; low

Class 1

2×10-11; low

4×10-9; low

3×10-5; high

NS

Class 2

1×10-21; low

1×10-12; high

2×10-10; low

NS

Exchange 1

3×10-3; high

2×10-14; low

1×10-39; high

2×10-39; high

Exchange 2

NS

3×10-5; low

2×10-9; low

NS

  1. p-values and direction of significant associations obtained for Chi Square or Cochran-Armitage tests (Additional file 1: Table S2) comparing DEFA1A3 haplotype class with features of the DEFA1A3 locus, based on the HapMap CEU and ECACC HRC samples. All p-values were adjusted for multiple testing using Bonferroni correction. NS = not significant. High = associated with a high DEFA1A3 copy number/allele frequency; Low = associated with a low DEFA1A3 copy number/allele frequency.