Variant Details

Variant: esv2761121

Internal ID

10377428

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr13:57138666..57229296	hg38	UCSC Ensembl
Inner	chr13:57712800..57803430	hg19	UCSC Ensembl
Inner	chr13:56610801..56701431	hg18	UCSC Ensembl

Cytoband

13q21.1

Allele length

Assembly	Allele length
hg38	90631
hg19	90631
hg18	90631

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6998043, essv6998012, essv6997958, essv6998075, essv6998025, essv6998037, essv6997972, essv6998007, essv6998030, essv6997973, essv6997951, essv6998024, essv6997956, essv6998001, essv6997959, essv6998068, essv6997971, essv6997946, essv6998023, essv6997962, essv6997961, essv6998069, essv6998036, essv6998003, essv6997983, essv6998005, essv6997965, essv6998018, essv6997991, essv6998013, essv6998050, essv6997996, essv6997960, essv6998072, essv6997943, essv6997937, essv6997981, essv6997993, essv6998054, essv6998035, essv6998049, essv6997988, essv6997945, essv6998051, essv6998029, essv6997995, essv6997977, essv6998056, essv6997969, essv6998028, essv6998034, essv6997986, essv6997980, essv6998064, essv6997987, essv6997948, essv6998042, essv6998020, essv6998016, essv6997935, essv6998060, essv6997957, essv6998019, essv6997997, essv6997952, essv6997990, essv6998074, essv6998004, essv6998021, essv6997968, essv6998073, essv6998052, essv6998010, essv6998027, essv6998032, essv6998046, essv6997992, essv6998063, essv6998062, essv6998048, essv6997994, essv6997984, essv6998071, essv6997970, essv6997942, essv6998039, essv6997939, essv6997936, essv6997975, essv6998026, essv6998058, essv6997999, essv6998017, essv6997979, essv6998065, essv6997953, essv6998038, essv6997963, essv6997950, essv6998040, essv6997941, essv6998057, essv6998045, essv6998059, essv6998002, essv6998047, essv6997940, essv6998053, essv6998067, essv6997976, essv6997982, essv6998061, essv6997938, essv6998009, essv6997998, essv6997954, essv6997985, essv6998031, essv6998070, essv6997947, essv6998014, essv6998008, essv6997974, essv6997964, essv6998006, essv6998041, essv6997949, essv6998015

Samples

SW_0884, SW_0638, SW_1000, SW_0255, SW_1027, SW_1222, SW_1283, SW_0145, SW_1402, SW_1459, SW_0505, SW_1115, SW_0240, SW_0885, SW_0146, SW_0003, SW_1234, SW_1080, SW_0102, SW_1259, SW_1225, SW_1268, SW_1425, SW_0578, SW_0846, SW_0175, SW_1387, SW_0801, SW_1437, SW_1272, SW_1092, SW_0115, SW_1195, SW_0191, SW_1232, SW_0593, SW_1138, SW_0640, SW_0691, SW_0173, SW_0033, SW_0609, SW_0116, SW_1302, SW_1252, SW_0099, SW_0891, SW_0032, SW_1361, SW_1570, SW_1258, SW_0828, SW_0085, SW_1413, SW_0047, SW_1263, SW_0048, SW_1448, SW_1282, SW_1419, SW_0312, SW_0805, SW_0230, SW_0817, SW_0214, SW_1404, SW_1048, SW_1284, SW_1299, SW_1043, SW_1040, SW_0715, SW_1527, SW_1357, SW_1233, SW_0856, SW_1323, SW_0631, SW_1079, SW_1414, SW_0847, SW_0701, SW_0044, SW_1093, SW_1428, SW_0590, SW_0535, SW_0183, SW_0165, SW_1471, SW_0576, SW_1264, SW_1415, SW_1060, SW_0653, SW_0258, SW_0339, SW_0829, SW_1346, SW_1071, SW_0833, SW_0190, SW_0323, SW_1349, SW_0678, SW_1248, SW_1313, SW_0872, SW_1551, SW_1463, SW_0198, SW_0043, SW_0155, SW_1180, SW_0822, SW_0049, SW_0674, SW_0009, SW_0256, SW_1273, SW_0338, SW_0624, SW_0241, SW_0225, SW_1026, SW_1281, SW_1214, SW_0239

Known Genes

PRR20A, PRR20B, PRR20C, PRR20D, PRR20E

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)

esv2761121

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	128
Observed Complex	0
Frequency	n/a