Method for detecting genetic variation

A method for detecting genetic variation, comprising the following steps:

• 1) acquiring reads from a test sample;
• 2) aligning said reads with a reference genome sequence;
• 3) dividing said reference genome sequence into windows, calculating the number of reads which are aligned to each window, and acquiring the statistic for each window on the basis of the number of said reads;
• and
• 4) for a fragment of the reference genome sequence, on the basis of the change in the statistics of all the windows thereon in the fragment of the reference genome sequence, acquiring positions where a significant change occurs in statistics of the windows on both sides, these positions being positions where genetic variation sites of the test sample are on the reference genome sequence.