Human Genome Variation is an online-only, full open access journal that contains articles and reports about variation and variability in human genomes and the consequences, implications and future impacts for the study of human genomics. An important and innovative feature of the journal is the Data Report article; these are short reports about human genome variation and variability which describe disease-causing variation and/or their frequencies. In addition, Data Reports can describe and analyse human multifactorial disease associated variations and/or their frequencies. A further feature of Human Genome Variation is a curated database of the underlying data from Data Reports, which will grow into an important resource for the genomics community. Human Genome Variation also publishes Articles and Reviews on the relevant topics in human genome studies. Full Articles is accompanied by a professionally written Editorial Summary. The intended audience for Human Genome Variation is researchers, scientists, clinicians, genetic counsellors and those interested in human genomics, from all sectors and from around the world.