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. 2013 Apr 4;92(4):530–546. doi: 10.1016/j.ajhg.2013.03.004

Table 1.

CNVs Identified from BAC and Fosmid Clones

Individual Population CNV Type IGHV Genes Included in CNVa GRCh37 Outer-Start (Breakpoint)b GRCh37 Outer-End (Breakpoint)b Event Size (∼kbp) Accessions/Clones
CH17 nd Insertion V1-69D, V1-f, V3-h, V2-70D (gain) 107174927 107174941 46.6 AC245023, AC245094
CH17 nd Complex event V4-30-2 (gain) V4-31 (loss) 106804332 106810878 6.5c/48.8d AC245166
CH17 nd Complex event V5-a, V3-64D (gain) V3-9, V1-8 (loss) 106531320 106569343 38c/37.7e AC245085, AC247036
CH17 nd Insertion V7-4-1 (gain) 106483362 106484225 9.5 AC244226, AC245085, AC247036
NA12156 CEPH Deletion V4-39, V3-38 (loss) 106866357 106899042 32.7 AC244497
NA15510 and NA19240 nd and Yoruba Insertion V1-c, V3-d, V3-43D, V4-b (gain) 106877146 106877535 61.1 AC241995, AC234225; AC233755, KC162926f
NA18555 (haplotype A) Han Chinese Complex event V3-30-5, V4-30-4, V3-30-3, V4-30-2 (gain) 106804332 106804333 49.2 KC162924, AC231260, AC244456, KC162925
NA18555 (haplotype B) Han Chinese Deletion V4-31, V3-30 (loss) 106786254 106811213 24.9c/73.9d AC244464
NA18507 Yoruban Complex eventg V4-30-4, V3-30-3 (gain) V3-30 (loss) 106784242 nd 25.2 AC244411
NA18502 Yoruban Complex eventg V3-30-5 (gain) V3-33, V4-31 (loss) nd 106820685 24.7 AC245243
NA18956 and NA12156 Japanese and CEPH Duplication V3-23D (gain) 106716650 106727861 10.8 AC244473, AC206018; AC244492
NA19240 and NA12878 Yoruban and CEPH Insertion V7-4-1 (gain) 106483362 106484225 9.5 AC241513; AC245090

nd, not defined;

a

Genes either lost or gained in the context of GRCh37 as part of CNV-containing haplotypes are noted.

b

Coordinates delineate regions in which event breakpoints are predicted to have occurred.

c

Event size with respect to GRCh37.

d

Event size with respect to NA18555 haplotype A (see Figure 4).

e

Event size with respect to CH17.

f

Clones from these two individuals were used to build a composite haplotype.

g

Partially characterized.