It manifests as both an amplification and deletion and contains coding regions for genes like the golgin family members GOLGA6L6 and GOLGA8C, B cell CLL/Lymphoma gene BCL8 and an ankyrin domain family member, POTEB. The frequency of this variant in the Ctrl group is 58%, T1D group 33% and only 10% in the Twin cohort. The gene discussed is POTEB; the disease is B-cell chronic lymphocytic leukemia.