Table 3.

Junction Information for 13 Sequenced Tandem Duplication Events

		Distal					Proximal
Patient	Size ofDuplication(bp)	Clone	Break in Clone	Breakpointon X (bp)	Gene(s)	Repeata	Clone	Break in Clone	Breakpointon X (bp)	Gene(s)	Repeata
P348	110,706	Z73964	29979–29980	102861493	BC018033	None	AL049610	71628–71629	102750787	BC043382	AluSx
P116	509,297	Z73964	33210–33212	102864725	BC018033	AluSg	AL133348	15510–15512	102355428	NT_011651.262	HERVL
P015	176,890	Z75896	7582	102912383	None	L1ME3B	AL049610	56334	102735493	None	None
P224	391,975	Z75896	9196–9198	102913997	None	L1PA5	AL117327	32547–32549	102522022	NT_011651.284, AX721149	AluSg
P026	926,922	Z75896	24251–24255	102929052	None	L1PA3	Z95624	93–97	102002130	None	None
P083/PMD38b
	388,154	AL139229	13457	102956200	None	L1PA2	Z69733	14956	102568046	RAB40A, AX721149, AF422143	L1PA8A
	307,009	AL139228	1637	102875055	BC018033	L1PA7	…	…	…	…	…
P134	473,896	Z75896	25729–25730	102930530	None	L1PA3	AL606763	34280–34281	102456634	None	AluSx
PMD9	764,999	AL034485	10807–10809	103047142	None	MLT1H1	AL035494	69208–69210	102282143	NT_011651.261	L1PA13
P255	280,028	Z70227	35116–35117	103029562	MGC39900, BC028039, BC029803	None	AL049610	70375–70376	102749534	AK124135, BC043382	None
PMD24	805,457	AL135959	43175	103216370	NT_011651.303	None	Z92846	30511	102410913	None	LTR24
P114	954,830	AL121868	6053–6055	103364440	NT_011651.306	AluJo	Z92846	29208–29210	102409610	None	None
P176/PMD7	1,673,932	Z81144	2858–2860	104275619	IL1RAPL2	None	AL035444	18784–18786	102601687	NT_011651.286	MLT1C
P110	4,577,176	AL772400	69335–69340	106756530	NT_011651.351	AluSg	Z85997	33680–33675	102179354	NT_011651.259	AluYc2

^aDNA breaks in repetitive elements are listed as shown in RepeatMasker.

^bTwo possible distal breakpoints are shown for patient P083/PMD38.