## Description

This track shows data from the Human Genome Structural Variation Project. Clone ends from nine individuals from Kidd, et al. were mapped to the reference $Organism genome. This track shows clones whose end mappings were discordant with the reference genome in one of the following ways:

- deletion: Clone mapping too large relative to reference
- insertion: Clone mapping too small relative to reference
- inversion: In appropriate orientation, clone mapping spans potential inversion breakpoint
- OEA: One End Anchored clones (only one end could be mapped to reference)
- transchrm: Clone ends map to different chromosomes (name indicates identity of other chromosome after the underscore).

Each individual's discordant clone end mappings are in a different subtrack. The nine individuals' labels used in Kidd, et al., populations of origin, and Coriell Cell Repository catalog IDs are shown here:

Individual | Population | Coriell ID
ABC14 | CEPH | NA12156
ABC13 | Yoruba | NA19129
ABC12 | CEPH | NA12878
ABC11 | China | NA18555
ABC10 | Yoruba | NA19240
ABC9 | Japan | NA18956
ABC8 | Yoruba | NA18507
ABC7 | Yoruba | NA18517
G248 | Unknown | NA15510

## Methods

Excerpted from Kidd, et al.:

> We selected eight individuals as part of the first phase of the Human Genome Structural Variation Project. This included four individuals of Yoruba Nigerian ethnicity and four individuals of non-African ethnicity. For each individual we constructed a whole genomic library of about 1 million clones, using a fosmid subcloning strategy. Each library was arrayed and both ends of each clone insert were sequenced to generate a pair of high-quality end sequences (termed an end-sequence pair (ESP)). The overall approach generated a physical clone map for each individual human genome, flagging regions discrepant by size or orientation on the basis of the placement of end sequences against the reference assembly. Across all eight libraries, we mapped 6.1 million clones to distinct locations against the reference sequence (http://hgsv.washington.edu). Of these, 76,767 were discordant by length and/or orientation, indicating potential sites of structural variation. About 0.4% (23,742) of the ESPs mapped with only one end to the reference assembly despite the presence of high-quality sequence at the other end (termed one-end anchored (OEA) clones).

Note: This track contains many more than the 76,767 + 23,742 items mentioned above because it also includes clones whose ends map to different chromosomes (transchrm).

## References

Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, et al. Mapping and sequencing of structural variation from eight human genomes. Nature. 2008 May 1;453(7191):56-64.