Variant Details

Variant: dgv50e203

Internal ID

20126275

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr16:31738132..34209701	hg38	UCSC Ensembl
	chr16:31749453..34012168	hg19	UCSC Ensembl
	chr16:31656954..33919669	hg18	UCSC Ensembl

Cytoband

16p11.2

Allele length

Assembly	Allele length
hg38	2471570
hg19	2262716
hg18	2262716

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2762243, esv2760413

Samples

RW_0532, SW_1451, SW_1441, SW_0638, SW_1290, SW_1125, SW_0509, SW_1366, SW_0119, RW_0526, SW_1064, SW_0635, SW_1017, SW_0885, SW_1056, RW_0359, SW_1268, SW_0639, RW_0090, SW_1365, SW_1409, SW_1314, SW_0046, SW_1325, SW_0580, SW_1065, SW_0890, RW_0022, SW_1129, SW_0802, SW_0173, SW_1376, SW_1023, SW_0581, RW_0255, SW_1512, SW_1252, RW_0551, RW_0062, SW_1106, SW_0759, SW_0604, RW_0216, SW_0869, SW_0786, SW_1305, SW_0584, SW_0047, SW_1456, SW_0507, SW_0785, SW_1337, RW_0353, RW_0131, SW_1419, SW_0862, RW_0592, RW_0639, SW_1355, RW_0500, SW_1134, SW_1446, SW_1006, SW_0296, RW_0602, RW_0349, SW_1172, SW_1357, RW_0253, SW_0631, SW_1088, RW_0175, RW_0077, RW_0155, SW_1417, SW_1481, SW_1414, SW_0847, RW_0140, SW_1423, RW_0653, SW_1428, RW_0020, SW_1435, RW_0524, SW_0176, SW_0577, RW_0088, RW_0320, RW_0195, RW_0120, SW_0887, SW_1374, RW_0166, SW_1510, RW_0543, SW_0004, SW_1478, RW_0663, RW_0326, SW_1349, SW_0855, RW_0529, SW_1422, SW_1074, RW_0589, SW_0088, RW_0164, SW_0340, SW_0018, RW_0579, RW_0599, RW_0149, RW_0124, SW_0170, RW_0277, RW_0079, RW_0518, SW_1087, SW_1317, SW_1229, SW_1392, SW_0790, SW_0716, SW_1003, RW_0550, RW_0248, SW_1026, SW_0169, SW_0090, RW_0162, SW_1281, SW_1372, RW_0237, SW_1222, SW_0201, SW_1021, SW_1427, SW_1412, SW_1063, SW_1459, SW_1298, SW_0199, SW_0184, SW_1070, SW_0575, SW_0146, RW_0345, SW_0889, SW_0102, RW_0538, RW_0634, RW_0152, RW_0178, SW_1051, RW_0104, SW_0846, RW_0606, RW_0187, SW_1457, SW_1324, SW_1187, SW_0801, RW_0559, SW_0086, RW_0297, RW_0656, SW_1294, SW_1049, RW_0189, RW_0025, RW_0012, SW_1032, SW_0020, SW_1124, RW_0617, RW_0334, SW_0888, SW_0200, SW_0189, SW_1285, SW_1211, RW_0626, RW_0241, SW_0121, SW_1391, SW_1263, SW_1296, SW_1469, RW_0512, SW_1476, SW_0062, SW_1466, SW_1468, RW_0522, SW_1404, SW_1408, RW_0659, SW_1189, SW_0216, RW_0651, SW_1523, SW_1102, SW_0073, RW_0061, SW_1289, RW_0171, RW_0576, RW_0505, RW_0546, SW_1233, RW_0645, SW_0021, RW_0567, RW_0227, SW_1162, RW_0666, SW_1079, RW_0177, RW_0325, SW_1228, RW_0625, RW_0597, SW_1194, RW_0129, RW_0534, SW_1012, RW_0307, SW_1277, RW_0201, SW_0017, RW_0328, SW_1340, SW_0576, SW_0187, RW_0578, SW_1440, SW_1415, SW_1089, RW_0231, SW_1342, SW_1176, SW_0118, SW_0339, SW_1378, SW_1332, SW_1071, SW_0244, SW_0006, SW_0673, SW_1292, SW_1313, RW_0273, RW_0215, SW_1096, SW_0632, RW_0574, RW_0128, SW_0155, SW_0791, RW_0183, RW_0170, RW_0070, RW_0361, RW_0209, RW_0191, RW_0234, SW_0197, RW_0107, RW_0060, RW_0041, RW_0213

Known Genes

HERC2P4, LINC00273, LOC390705, RNU6-76P, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D, ZNF267, ZNF720

Method

Merging

Analysis

Two different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.

Platform

Merging

Comments

Reference

Vogler_et_al_2010

Pubmed ID

21179565

Accession Number(s)

dgv50e203

Frequency

Sample Size	1109
Observed Gain	156
Observed Loss	123
Observed Complex	0
Frequency	n/a