Data Download



Validated Sites of Structural Variation

Formatted and compressed files are available for bulk data download. The most useful file is likely to be the listing of sample level, validated sites of structural variation. This table is available here.

Novel Sequence Information

Files describing the “novel”sequences not found in the build35 reference are available here. The sequence of all 1,736 assembled contigs is availabol (freeze1.contigs.fa.1736), as well as the names of the 1,435 contigs analyzed by array CGH and the 1,299 contigs confirmed as human in origin. The clone names and mapped positions for each of the 525 identified regions of new insertion are also given (clones_in_nils.txt).

Single Nucleotide and Small Insertions-Deletion Variants

Single nucleotide and small indel variants identified using the ESPs from the ABC7-ABC14 libraries are available here. All variants have been submitted to dbSNP and should be included in the next release, dependant upon the dbSNP update schedule.

ESP Mapping Data

These files represent the raw end-sequence mapping data and are available here. For each library the following files are available: