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What I am gonna focus today is really different large forms of genome variations involving essentially gains, losses, and inversions of sequence. So showing here is 30 simple background we have examples of the structure variation operation defined as an advanced great than a kbn size. So we have pieces of DNA sometimes become deleted, we have pieces of DNA sometimes become duplicated on chromosomes, and regions which can be in fact inverted or turned around with respect to another orientation. So this very busy map here represents probably about three years’ work in my lab, just kind of the general pattern of structure variation in 8 human genomes. So showing here is the different human chromosomes, four from African, four from non-African, the distinction is really not that important. What I am showing you here is the presence of insertions, deletions and inversions as blue, red and green. So each line here represents a different human genome that has been analysed, looking for structure variation events, greater than 5,000 bp size, so couple of things maybe you can get from this. You can see there is a lot jade variation out there, that is above the level of single para change. And most of the events you have seen here are essentially inherited, but now we know based on the study from about 2,000 genomes, there is a significant fraction of very large events for hundreds of kbp in size, that either individually specific, or specific to specific families.
