Variant Details

Variant: dgv73e203

Internal ID

20126298

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr19:42711176..43342242	hg38	UCSC Ensembl
	chr19:43215328..43846394	hg19	UCSC Ensembl
	chr19:47907168..48538234	hg18	UCSC Ensembl

Cytoband

19q13.2

Allele length

Assembly	Allele length
hg38	631067
hg19	631067
hg18	631067

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2763121, esv2760524

Samples

SW_1290, RW_0123, SW_0509, SW_1400, SW_1402, SW_1433, SW_1315, RW_0010, SW_0623, RW_0099, SW_0607, SW_0639, RW_0314, SW_1343, SW_1464, SW_1409, SW_0149, SW_1105, RW_0141, SW_0341, SW_0046, SW_1092, SW_1397, RW_0354, SW_0570, SW_1286, SW_1236, RW_0180, RW_0022, SW_1398, SW_1013, SW_0581, SW_1302, SW_0589, RW_0271, SW_0759, SW_0604, RW_0216, SW_1258, SW_1126, SW_0047, SW_1456, RW_0502, SW_0312, SW_0862, RW_0544, RW_0161, RW_0233, SW_0071, RW_0506, RW_0592, RW_0111, SW_1009, SW_1006, SW_0019, SW_1504, SW_0757, RW_0349, SW_1212, SW_1144, SW_1040, SW_0715, SW_0008, SW_1131, SW_1095, SW_0856, RW_0253, SW_1323, SW_0631, RW_0346, RW_0214, RW_0611, SW_0701, SW_0368, SW_0861, RW_0064, RW_0607, SW_1047, RW_0251, SW_0843, SW_1182, SW_1501, SW_0619, RW_0036, SW_1193, RW_0068, RW_0527, RW_0523, RW_0120, SW_0253, SW_1368, SW_1112, RW_0543, RW_0235, SW_1067, SW_1345, SW_0592, SW_0323, SW_0582, SW_0270, SW_1074, SW_0143, SW_0147, RW_0229, SW_1156, SW_0634, SW_1463, SW_1416, RW_0149, SW_0170, RW_0518, SW_0009, SW_0160, SW_1384, RW_0263, RW_0223, SW_1317, SW_1273, RW_0110, SW_1229, SW_0627, SW_1392, SW_1175, SW_0690, SW_0148, RW_0554, SW_1003, RW_0336, RW_0594, SW_1203, SW_0884, SW_1222, RW_0087, SW_1021, SW_0835, SW_0873, SW_1111, SW_1081, SW_0146, SW_1436, RW_0262, SW_0102, SW_1225, SW_1425, RW_0104, RW_0187, RW_0006, RW_0146, SW_1354, SW_1232, RW_0243, SW_1138, SW_0874, RW_0189, SW_0640, RW_0202, RW_0254, RW_0137, SW_1455, SW_0085, SW_0760, RW_0115, SW_1263, RW_0218, SW_1253, SW_1282, RW_0024, SW_1204, SW_1044, SW_1468, SW_0830, SW_0758, SW_1408, RW_0659, SW_0216, SW_1028, SW_0073, SW_1284, RW_0637, RW_0321, SW_0789, SW_1395, RW_0094, SW_0665, RW_0546, SW_1508, SW_1233, RW_0311, RW_0002, SW_1148, RW_0299, SW_1079, SW_0703, RW_0211, RW_0177, RW_0029, RW_0250, RW_0310, RW_0625, RW_0257, SW_1438, SW_1059, RW_0307, RW_0328, SW_1340, SW_0187, RW_0578, SW_1467, RW_0106, RW_0231, RW_0194, SW_0618, SW_0379, RW_0341, SW_0829, SW_0524, SW_0113, SW_1248, SW_1480, RW_0273, RW_0627, RW_0306, RW_0612, RW_0033, RW_0581, SW_1147, RW_0063, SW_1484, SW_1267, SW_0242, RW_0084, SW_0844, SW_1430

Known Genes

LOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9

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)

dgv73e203

Frequency

Sample Size	1109
Observed Gain	64
Observed Loss	175
Observed Complex	0
Frequency	n/a