Table 1.

Overview of samples, sequencing statistics, identified variation, and Mendelian inheritance errors.

Sample	Coverage (×)	# SVs	Total affected sequence (bp)	SV MIE (%)	Unique SVs in cohort	Study-specific SVs	SNV	SNV MIE (%)
T1P	15.7	29,030	12,775,459	4409	75	18,601	3,142,916	448,808
T1F	12.6	26,475	11,340,949	(15.2%)	245	14,172	2,663,675	(14.3%)
T1M	14.9	27,421	12,998,704		236	18,334	3,007,973
T2P	17.3	28,766	12,974,306	3186	81	19,098	3,383,890	290,676
T2F	14.2	27,412	12,595,695	(11.1%)	244	19,549	3,127,690	(8.6%)
T2M	17.2	28,649	12,851,920		253	18,539	3,353,748
T3P	15.0	28,111	12,689,520	2681	57	19,321	3,147,660	219,392
T3F	18.3	28,971	13,327,881	(9.5%)	247	19,198	3,382,461	(7.0%)
T3M	18.0	28,962	12,884,749		264	19,419	3,352,767
T4P	16.1	28,640	12,830,123	2763	33	19,470	3,166,126	301,415
T4F	16.7	28,746	12,540,739	(9.6%)	261	21,653	3,261,812	(9.5%)
T4M	16.1	28,322	12,683,375		256	19,523	3,101,729
T5P	41.6	33,056	14,085,392	2130	16	21,539	3,956,435	125,023
T5F	37.6	33,277	14,235,204	(6.4%)	228	18,974	3,905,927	(3.2%)
T5M	40.1	33,138	13,949,579		273	22,023	3,932,800

Columns from (left to right) indicate: sample identifier, average coverage across the genome (GRCh38), number of identified SVs (≥50 bp), total number of based affected by SVs, number of SVs in proband with a Mendelian inheritance error (% is indicated below), number of SVs only occurring in this sample, number of SVs only found in this study (not in HG0002 and Audano et al.), number of identified SNVs, number of SNVs in proband with a Mendelian inheritance error (% is indicated below).

F father, M mother, P proband, SV structural variant, MIE Mendelian Inheritance Error, SNV single nucleotide variant.