HBA2 and thalassemia: For example, an inversion disconnecting TFAP2A from its enhancers causes branchiooculofacial syndrome3, the deletion of esv337548 in the alpha globin cluster leads to thalassemia but protects sub-Saharan African populations from malaria4, a rare deletion in PCSK9 is associated with lower low-density lipoprotein cholesterol levels5, rare deletions in HBA1/HBA2/HBB is associated with anaemia6, SVs leads to pathogenic limb via disturbing EPHA4 topologically associated domains (TAD) and a duplication of SRGAP2 in the human lineage enables higher plasticity of the brain neocortex2,7.