Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia

Table 4 Overlapping regions of homozygosity

Chromosome	Cytoband Start	Min (Hg19)	Max (Hg19)	Gene Count	Number of patients (n)	Candidate gene
1	p22.3	87,889,117	101,551,513	150	2
1	q21.1	144,033,938	150,574,441	56	2	RMB8A
1	q43	242,177,676	249,198,692	354	2
2	p16.3	49,466,260	65,782,717	246	3
2	p14	67,193,897	74,970,256	23	3
2	q24.3	171,534,387	175,330,938	45	2
2	q31.1	192,319,867	217,837,588	237	2
2	q31.1	177,426,525	185,333,874	342	2	CMTM7, CCR4, TRIM71, CNOT10
3	p12.3	76,456,413	90,485,635	67	2
3	p24.3	31,161,056	36,796,647	89	2
3	q11.1	102,994,376	115,492,735	321	3
3	q23	139,702,339	150,629,667	234	2
3	q26.31	187,040,042	190,991,439	65	2	TP63
4	p14	40,533,584	45,755,965	76	2
4	p15.33	11,546,274	16,693,715	34	2
4	q11	65,736,529	71,893,827	87	3
4	q22.1	111,799,253	139,609,452	231	3
5	p15.1	9,998,327	17,326,672	341	2
5	p15.2	18,320,731	31,181,789	23	2
6	q16.1	106,018,502	110,701,451	45	2
6	q25.2	153,345,184	158,377,316	56	2
7	q21.3	103,575,957	105,632,704	78	2
7	q31.1	111,645,191	124,187,217	65	3	CFTR
7	q35	144,922,849	150,951,819	89	2
8	q12.1	58,780,480	65,128,132	78	2
9	p24.2	3,939,996	12,907,793	98	2
10	q23.31	116,005,494	124,214,355	120	2	EMX2
12	p13.32	3,780,336	7,918,460	89	2
12	q13.13	58,000,215	68,228,170	56	2
12	q13.3	103,118,607	113,263,934	45	3
13	q12.13	33,381,720	34,694,189	32	4
13	q22.3	77,503,539	87,943,460	23	2
14	q31.3	92,919,833	94,993,744	45	2
15	q22.2	60,644,347	68,204,581	67	2
17	q11.1	35,694,046	41,797,254	34	2
18	p11.22	8,993,423	12,697,711	60	3
18	q22.1	66,236,242	74,326,105	78	2
20	q11.21	45,391,728	46,347,251	24	2
20	q13.12	50,008,791	53,427,207	12	2
22	q11.21	44,669,027	45,906,107	10	2
X	q11.1	61,932,503	66,974,524	45	8
X	q13.1	71,819,690	77,853,204	32	2

ISSN: 1755-8166