ChromosOmics - Database


Icon by Leon Liehr              



                                                     ~4150 breakpoints from ~2000 cases included                                                  
  COUNTER

How to cite this database:
-
Liehr T. 2025. Constitutional chromosomal breakpoints.
https://cs-tl.de/DB/CA/BPs/0-Start.html
[
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in 2022: ~300
in 2021: 367

last update: 01. Jan. 2025

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Created by Dr. Thomas Liehr (PhD)
professional affiliation: Institute of Human Genetics, 07740 Jena, Germany;
e-mail: Thomas.Liehr@med.uni-jena.de or: LiehrT@web.de


            

AIM OF THIS PAGE Number of characterized breakpoints (bps) by chromosome How to use this page
  BREAKPOINTS BY CHROMOSOME
chr. 1
p3

p2
p1
q1
q2
q3
q4

recurrent
chr. 2
p2
p1
q1
q2
q3



recurrent 
 chr. 3
p2
p1
q1
q2




recurrent 
chr. 4
p1
q1
q2
q3




recurrent
chr. 5
p1
q1
q2
q3




recurrent 
chr. 6
p2
p1
q1
q2




recurrent 
chr. 7
p2
p1
q1
q2
q3



recurrent 
chr. 8
p2
p1
q1
q2




recurrent
chr. 9
p2
p1
q1
q2
q3

recurrent
chr. 10
p1
q1
q2



recurrent
chr. 11
p1
q1
q2



recurrent
chr. 12
p1
q1
q2



recurrent
chr. 13
p1
q1
q2
q3


recurrent
chr. 14
p1
q1
q2
q3


recurrent
chr. 15
p1
q1
q2



recurrent
chr. 16
p1
q1
q2



recurrent
chr. 17
p1
q1
q2


recurrent
chr. 18
p1
q1
q2


recurrent
chr. 19
p13
p12~q12
q13


recurrent
chr. 20
p1
q1



recurrent
chr. 21
p1
q1
q2


recurrent
chr. 22
p1
q1



recurrent
X-chr.
p2
p1
q1
q2

recurrent
Y-chr.
p1
q1



recurrent
DISCLAIMER
link helpful for diagnostics

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References

Aim of this page

1. collect all cases of constitutional breakpoints in infertile and mentally retarded from Jena lab since 1998.
2. find out about repeatedly showing up breakpoints and iknclude in a seperate webpage.
3. provide data to find clusters of breakpoints in the human genome.

For inversions see also Human Polymorphic Inversion DataBase

Interestingly, 34 inversions (excluding inversions of chromosome 9 and Y) found in Taiwan were not overlapping with those collected here for Germany / (Middle) Europe apart from inv(2)(p11.2q13), known to evolve due to evolutionary peciluarities of chromosome 2 repeatedly in human population and inv(6)(p21.1q15) - seen in both studies only one time {14}.
How to use this page?

This page is organized like the 'sister-page' on small supernumerary marker chromosomes (sSMC)
- the structure is explained here.

Also take care that the nomenclature here may not always be done exactly acc. to ISCN !!

Genomic size of human chromosomes (GRCh37/hg19)

chromosome size in Mb
1 249,250621
2 243,199373
3 198,02243
4 191,154276
5 180,91526
6 171,115067
7 159,138663
8 146,364022
9 141,213431
10 135,534747
11 135,006516
12 133,851895
13 115,169878
14 107,34954
15 102,531392
16 90,354753
17 81,195210
18 78,077248
19 59,128983
20 63,02552
21 48,129895
22 51,304566
X 155,27056
Y 59,373566
overall 3095,67741
    
Number of breakpoints per chromosomes included in this page 

chr. breaks
cases
1 281 201
2 287
180
3 219
133
4
275
154
5
223
129
6
183
86
7
209
101
8
188 78
9
219 101
10 192 84
11 215 94
12 157
66
13 209 79
14 134
56
15 113
47
16 109
38
17 70
24
18 171 66
19 61 21
20 92
29
21 103
36
22 83
18
X 227
129
Y 130
45
SUMMARY 4150 1995


An Excel-file with more data on included cases (country where sample was derived from, gender, age, reason for studying) can be downloaded here.


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