Euchromatic variants (EVs) - large scale cytogenetically visible copy number variants

 

Band
var(8)
(p23.1p23.1)
var(9)
(p12p12)
var(9)dup(9)
(p11.2p13.1)
var(9)dup(9) OR
var(9)trp(9)
(q13q21.12))
var(9)
del(9) OR
var(9) dup(9)
(q13q21.12)
var(15)
(q11.2q11.2)
var(16)
(p11.2p11.2)
Content
DEFB/OR
genes/
pseudo-
genes
1.0 Mb
repeat
Multiple genes, pseudo-genes, gene fragments and CNVs
NF1/IGVH/
GABRA5/
BCL8A
pseudo/genes
IGVH/CTD/
ADL/
FLJ46121/
TP53TG3
pseudo/genes
Control
copy number

2 - 7

?4
4
4
4
NF1: 1-4
IGVH: 1-3
4
Variant
copy number

9 - 12

7 - 14

5 - 6

5 OR 6

3 OR 5
NF1: 5-10
IGVH: 4-9
10 - 12
__
Hollox et al
Am J Hum Genet
2003;73:
591-600
Lecce et al
Hum Genet
2006;118:
760-766
Di Giacomo
et al
Prenat Diagn, 2004;24:619-622
Willatt et al
Eur J Hum Genet, 2007;15:45-52 Mevatee et al
Chromosome Res 13 Suppl 1 1.33P
Fantes et al
J Med Genet
2002;39:170-177
Barber et al Hum Genet 1999;104:211-218

 

Euchromatic Variant (EV) Chart

Idiograms with the position at which EVs occur marked by arrows.

Group 1 EV imbalances are in blue; Group 2 EV in purple and Group 3 EV in red.

Figures give the number of times independent families with the same rearrangement have been reported (e.g. 8 etc).

Submission Form

 

National Genetics Reference Laboratory (Wessex)
Salisbury District Hospital
Salisbury