Human Genome Structural Variation Project

Fosmid Variants

Tuzun Fosmid Variant Analysis link

Inversions, deletions and insertions are important mediators of disease and disease susceptibility1. We systematically compared the human genome reference sequence to a second genome (represented by fosmid paired-end sequences) to detect intermediate-sized structural variants (ISV) > 8 kb in length. We identified 297 sites of structural variation, corresponding to 139 insertions, 102 deletions and 56 inversion breakpoints. Based on our combined literature, sequence and experimental analyses we provide validation for 112 of the structural variants including several of biomedical relevance. These data provide the first fine-scale structural variation map of the human genome and provide the requisite sequence precision for subsequent population and association studies with human disease.