Table 3.
Search for similar 374 kb 10p15.1-duplications including IL2RA in public databases (excluded small duplications (1 and 5 bp), duplications extending into 10q-arm, and size uncertain.
| Database | Gain including IL2RA | Total number of entrees in database |
Size duplication median (range) |
Reported phenotype | |
|---|---|---|---|---|---|
| Control population |
WTCCC_3000a | 0 | 2931 | n.a. | n.a. |
|
Patient database |
Database of Genomic Variants (DGV)b | 0 | >7,000,000 | n.a. | n.a. |
|
Decipherc (no comparable duplications, selected hits limited to 10p-arm) |
n = 19 | >27,000 | 12.9 Mb (2.9–32.5) |
n = 8 no phenotype entered n = 11 no inflammation of the large intestine OR Crohn’s disease |
|
| ClinVard | n = 13 | >493,240 | 12.7 Mb (0.6–26.4) |
n = 2 no phenotype entered n = 11 no inflammation of the large intestine OR Crohn’s disease |
|
| Dutch consortium CNV databasee | n = 1 | 174 Kb (including IL2RA, excluding IL15RA) | n = 1 no IBD reported |
aWellcome Trust Case Control Consortium (https://www.wtccc.org.uk/).
bDatabase of Genomic Variants (http://dgv.tcag.ca/dgv/app/home).
cDecipher (https://decipher.sanger.ac.uk/).
dNCBI ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/).
ePersonal communication.