Entering edit mode
10.8 years ago
Jeremy Leipzig
22k
We are seeing this with a tumor sample we have which I am not at liberty to share:
chr2 89852902 89853119 chr10 39088075 39088285 0x1bdf49a90 7 + - TYPE:DELETION IDS:1,7
Does this represent a translocation? If so, which is the source and which is the sink?
What do you mean by "source" and "sink"? I believe that this output states that chr2 (+strand) is fused to chr10 (-strand). Not sure why it's labelled a Deletion, other than that Lumpy doesn't seem to have a translocation type (which is odd).
surely you would think lumpy would try to infer whether the sequence jumped from chr2 to chr10 or vice-versa
Unless there are two breakpoints supporting the ends, it seems to me that this is evidence of a chromosomal fusion, not a small sequence jumping.