Variant Details

Variant: dgv131e203

Internal ID

22760827

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr5:653466..874903	hg38	UCSC Ensembl
	chr5:653581..875018	hg19	UCSC Ensembl
	chr5:706581..928018	hg18	UCSC Ensembl

Cytoband

5p15.33

Allele length

Assembly	Allele length
hg38	221438
hg19	221438
hg18	221438

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2760933, esv2763887

Samples

SW_1441, SW_0831, RW_0356, SW_0832, RW_0203, SW_0354, RW_0292, SW_0119, SW_1064, SW_1017, RW_0520, SW_1199, SW_1056, SW_0623, SW_0072, RW_0256, RW_0093, SW_1168, RW_0359, SW_0607, SW_1042, SW_1244, RW_0090, SW_1365, SW_1464, RW_0322, SW_1348, RW_0134, SW_1223, SW_1330, SW_0890, RW_0586, SW_0029, SW_1129, SW_0647, SW_1023, SW_1013, SW_0581, RW_0255, SW_1302, SW_0815, SW_1258, SW_0869, SW_1126, SW_1055, RW_0100, SW_0047, SW_0507, RW_0003, SW_0227, SW_0605, RW_0136, SW_1085, SW_0805, SW_0862, SW_1477, RW_0074, SW_1153, SW_1470, RW_0230, RW_0506, RW_0631, RW_0519, SW_0214, SW_0077, RW_0147, SW_1165, SW_1006, SW_0296, RW_0602, SW_0859, RW_0531, SW_1323, RW_0279, RW_0596, RW_0176, RW_0601, SW_1088, RW_0611, SW_1543, SW_1356, SW_1414, RW_0664, RW_0653, RW_0020, RW_0252, SW_0843, SW_0165, RW_0289, RW_0053, RW_0316, SW_1249, SW_0254, RW_0527, RW_0195, RW_0120, SW_0253, SW_0007, SW_0887, SW_1101, RW_0166, SW_1112, SW_1510, RW_0663, RW_0562, SW_1345, SW_1349, RW_0529, SW_1422, RW_0232, SW_1074, SW_0651, RW_0589, SW_1083, SW_0147, RW_0119, SW_1520, SW_0198, RW_0149, SW_0579, RW_0050, SW_0160, SW_1137, RW_0028, RW_0144, SW_1273, RW_0184, SW_1229, SW_0790, SW_0690, RW_0266, SW_0716, SW_0624, RW_0248, SW_1303, SW_1372, SW_0201, RW_0087, SW_1108, SW_1021, SW_1063, SW_1443, SW_0199, RW_0553, RW_0329, SW_1111, SW_1080, SW_0889, RW_0582, RW_0268, RW_0178, SW_1051, SW_1396, RW_0650, SW_1132, SW_0115, SW_0191, RW_0330, SW_1049, SW_0045, RW_0629, RW_0012, SW_1447, SW_0834, SW_1066, RW_0254, SW_1124, RW_0549, SW_0800, RW_0510, SW_0888, RW_0049, SW_0200, SW_0189, RW_0174, SW_1455, SW_0085, RW_0113, SW_1082, SW_1282, SW_1469, RW_0512, RW_0267, SW_1468, SW_1243, SW_0648, RW_0558, RW_0577, SW_1485, SW_1408, RW_0651, RW_0103, SW_1028, RW_0004, RW_0637, RW_0600, RW_0005, RW_0197, RW_0094, SW_1053, SW_1371, RW_0311, RW_0655, SW_1148, SW_1353, SW_1198, RW_0593, SW_1171, SW_1130, SW_0044, RW_0250, RW_0288, RW_0597, SW_0211, RW_0633, SW_1438, RW_0201, SW_1094, SW_0663, SW_0576, RW_0667, RW_0308, RW_0078, RW_0032, SW_0379, RW_0073, SW_1378, SW_0269, SW_0190, SW_0568, RW_0186, SW_0113, RW_0013, SW_0673, RW_0275, RW_0132, SW_1480, SW_1313, SW_1142, RW_0273, SW_0872, RW_0238, SW_0791, SW_0049, RW_0170, SW_1008, SW_1201, SW_1038, RW_0209, RW_0057, RW_0508, SW_1267, RW_0207, SW_0100, RW_0041, RW_0139, SW_0844, RW_0213, SW_1430

Known Genes

BRD9, CEP72, TPPP, ZDHHC11

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)

dgv131e203

Frequency

Sample Size	1109
Observed Gain	183
Observed Loss	85
Observed Complex	0
Frequency	n/a