Variant Details

Variant: esv2763867

Internal ID

10377903

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:58018390..58064843	hg38	UCSC Ensembl
Inner	chr5:57314217..57360670	hg19	UCSC Ensembl
Inner	chr5:57349974..57396427	hg18	UCSC Ensembl

Cytoband

5q11.2

Allele length

Assembly	Allele length
hg38	46454
hg19	46454
hg18	46454

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7031146, essv7031210, essv7031165, essv7031148, essv7031179, essv7031140, essv7031166, essv7031155, essv7031130, essv7031149, essv7031207, essv7031194, essv7031198, essv7031180, essv7031209, essv7031172, essv7031174, essv7031201, essv7031184, essv7031171, essv7031126, essv7031188, essv7031161, essv7031141, essv7031170, essv7031182, essv7031125, essv7031183, essv7031200, essv7031143, essv7031199, essv7031208, essv7031203, essv7031177, essv7031135, essv7031181, essv7031168, essv7031151, essv7031196, essv7031193, essv7031169, essv7031185, essv7031157, essv7031154, essv7031192, essv7031162, essv7031158, essv7031136, essv7031139, essv7031204, essv7031159, essv7031163, essv7031205, essv7031186, essv7031142, essv7031138, essv7031129, essv7031187, essv7031197, essv7031132, essv7031150, essv7031137, essv7031164, essv7031133, essv7031121, essv7031124, essv7031147, essv7031152, essv7031153, essv7031127, essv7031175, essv7031131, essv7031128, essv7031122, essv7031206, essv7031173, essv7031160, essv7031195, essv7031144, essv7031176

Samples

SW_1224, SW_1125, SW_1377, SW_1222, SW_1063, SW_1298, SW_1017, SW_1225, SW_1118, SW_1042, SW_1425, SW_0846, SW_1304, SW_1287, SW_1105, SW_1272, SW_1033, SW_0771, SW_1232, SW_1097, SW_1138, SW_1031, SW_1020, SW_1023, SW_0609, SW_1252, SW_0786, SW_1109, SW_1057, SW_1055, SW_1296, SW_0646, SW_0605, SW_0552, SW_1282, SW_1085, SW_1204, SW_1044, SW_1235, SW_1243, SW_0625, SW_1102, SW_1212, SW_1144, SW_1084, SW_1149, SW_1043, SW_0665, SW_1239, SW_1171, SW_1029, SW_0703, SW_0847, SW_0861, SW_1140, SW_1072, SW_0663, SW_0659, SW_0576, SW_1264, SW_1062, SW_1205, SW_1112, SW_1230, SW_1422, SW_1292, SW_1248, SW_0634, SW_1240, SW_0579, SW_1008, SW_0674, SW_1137, SW_1273, SW_1229, SW_1175, SW_1046, SW_0790, SW_0716, SW_1026

Known Genes

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)

esv2763867

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	80
Observed Complex	0
Frequency	n/a