Fine-Scale Mapping and Sequencing of Structural Variation from Eight Human Genomes

ABSTRACT: Genetic variation amongst individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single-nucleotide changes. In this manuscript we explore variation on an intermediate scale-particularly insertions, deletions, and inversions affecting from a few thousand to a few million base pairs. We employed a clone-based method to interrogate this intermediate structural variation in eight individuals of diverse geographic ancestry. Our analysis provides a comprehensive overview of the normal pattern of structural variation present in these genomes, refining the location of 1695 structural variants. We find that 50% were seen in more than one individual and that nearly half lay outside regions of the genome previously described as structurally varia

ORGANISM(S): Homo sapiens

SUBMITTER: Lin Chen 

PROVIDER: E-GEOD-10008 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress