page_title: End-sequence profiling
section_title: Copy number variation
hierarchical_section_title: End-sequence profiling / Structural aberration detection / Copy number variation
caption_attribution_description: Jun Hao, Own work
context_page_description: End-sequence profiling is a method based on sequence-tagged connectors developed to facilitate de novo genome sequencing to identify high-resolution copy number and structural aberrations such as inversions and translocations.
  Briefly, the target genomic DNA is isolated and partially digested with restriction enzymes into large fragments. Following size-fractionation, the fragments are cloned into plasmids to construct artificial chromosomes such as bacterial artificial chromosomes which are then sequenced and compared to the reference genome. The differences, including orientation and length variations between constructed chromosomes and the reference genome, will suggest copy number and structural aberration.
context_section_description: In some cases, discordant reads can also indicate a CNV for example in sequences repeats. For larger CNV, the density of the reads will vary accordingly to the copy number. An increase of copy numbers will be reflected by increasing mapping of the same region on the reference genome.
caption: Copy number alterations detected by ESP
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