Variant Details

Variant: dgv17e203

Internal ID

22760713

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr11:5756780..5795055	hg38	UCSC Ensembl
	chr11:5778010..5816285	hg19	UCSC Ensembl
	chr11:5734586..5772861	hg18	UCSC Ensembl

Cytoband

11p15.4

Allele length

Assembly	Allele length
hg38	38276
hg19	38276
hg18	38276

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2760180, esv2760333

Samples

RW_0059, RW_0123, SW_0057, RW_0585, RW_0071, RW_0138, RW_0583, RW_0636, RW_0644, RW_0292, RW_0039, SW_1017, RW_0101, SW_1535, SW_0072, SW_1143, SW_0607, SW_0639, SW_1343, SW_1464, RW_0270, SW_0149, RW_0322, SW_1348, SW_0570, SW_1286, SW_1236, RW_0658, RW_0586, SW_0802, RW_0179, RW_0271, RW_0125, RW_0062, RW_0503, SW_0759, RW_0216, SW_0786, SW_1413, SW_0785, RW_0536, RW_0112, SW_0862, SW_0525, RW_0528, RW_0161, RW_0616, RW_0506, RW_0631, RW_0639, RW_0023, SW_1355, RW_0173, RW_0118, RW_0500, SW_0019, RW_0602, RW_0349, SW_1144, SW_1149, RW_0619, RW_0185, SW_0787, RW_0318, RW_0531, RW_0279, SW_1411, RW_0601, RW_0346, RW_0077, RW_0611, RW_0296, SW_1356, SW_0089, RW_0212, SW_1501, RW_0088, SW_1060, RW_0316, RW_0068, RW_0523, RW_0120, RW_0042, SW_1112, SW_0814, RW_0235, SW_1478, SW_1345, SW_0323, RW_0200, RW_0632, SW_1301, RW_0164, RW_0119, SW_0018, SW_1156, SW_0198, RW_0599, RW_0149, RW_0124, RW_0079, RW_0665, SW_1215, SW_0009, SW_0160, SW_1273, SW_1206, SW_0159, SW_1128, SW_1405, RW_0072, SW_0690, RW_0554, RW_0550, SW_0169, RW_0162, RW_0208, RW_0274, RW_0660, SW_1027, SW_0285, RW_0087, RW_0148, SW_0142, RW_0553, RW_0329, SW_0873, SW_1070, SW_1166, SW_0158, SW_0575, SW_0146, RW_0323, RW_0345, RW_0007, RW_0582, RW_0152, SW_1051, RW_0606, SW_1387, SW_1437, SW_0115, RW_0146, SW_0191, SW_1367, SW_1049, RW_0188, RW_0217, RW_0096, SW_1114, RW_0011, SW_1447, SW_0033, RW_0504, RW_0254, SW_1124, RW_0617, RW_0549, RW_0334, RW_0510, SW_0015, RW_0137, SW_1455, RW_0082, RW_0533, SW_0760, RW_0603, RW_0218, RW_0358, SW_0060, SW_0185, SW_1309, RW_0267, RW_0024, RW_0558, RW_0541, SW_1485, RW_0324, SW_1358, RW_0061, RW_0197, SW_1043, RW_0576, RW_0505, RW_0094, SW_0761, SW_1371, RW_0608, RW_0286, RW_0002, RW_0593, SW_1171, SW_1079, SW_0703, RW_0211, RW_0177, RW_0029, RW_0250, RW_0310, RW_0288, RW_0257, RW_0327, SW_0211, RW_0633, SW_1059, SW_1012, RW_0260, RW_0201, SW_1472, SW_0663, RW_0578, RW_0521, SW_0118, SW_0379, SW_0101, RW_0341, RW_0145, SW_1378, SW_1306, SW_0061, RW_0331, RW_0669, SW_0113, SW_0673, RW_0273, RW_0662, RW_0621, RW_0045, SW_0155, RW_0646, RW_0612, RW_0033, SW_1509, RW_0361, RW_0209, SW_0842, RW_0057, SW_0144, SW_1147, RW_0351, RW_0063, SW_0352, RW_0234, RW_0018, SW_1209, SW_0197, SW_0100, RW_0084

Known Genes

OR52N1, OR52N5

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)

dgv17e203

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	248
Observed Complex	0
Frequency	n/a