Variant Details

Variant: esv2764082

Internal ID

10378118

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:25089453..25126818	hg38	UCSC Ensembl
Inner	chr8:24946968..24984333	hg19	UCSC Ensembl
Inner	chr8:25002885..25040250	hg18	UCSC Ensembl

Cytoband

8p21.2

Allele length

Assembly	Allele length
hg38	37366
hg19	37366
hg18	37366

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6992882, essv6992873, essv6992883, essv6992890, essv6992915, essv6992898, essv6992908, essv6992868, essv6992912, essv6992902, essv6992864, essv6992851, essv6992849, essv6992919, essv6992837, essv6992875, essv6992895, essv6992918, essv6992859, essv6992917, essv6992871, essv6992841, essv6992880, essv6992896, essv6992857, essv6992858, essv6992886, essv6992914, essv6992905, essv6992913, essv6992877, essv6992899, essv6992839, essv6992894, essv6992892, essv6992888, essv6992848, essv6992907, essv6992901, essv6992897, essv6992852, essv6992869, essv6992906, essv6992870, essv6992876, essv6992909, essv6992842, essv6992910, essv6992893, essv6992885, essv6992838, essv6992866, essv6992847, essv6992861, essv6992887, essv6992884, essv6992881, essv6992863, essv6992853, essv6992891, essv6992850, essv6992845, essv6992903, essv6992854, essv6992843, essv6992862, essv6992874, essv6992865, essv6992904, essv6992840, essv6992872, essv6992916, essv6992879, essv6992860, essv6992846

Samples

SW_0841, SW_0370, SW_0201, SW_0142, SW_0030, SW_0835, SW_1111, SW_1315, SW_1056, SW_1168, SW_0063, SW_1143, SW_1324, SW_0202, SW_1304, SW_1314, SW_1367, SW_0086, SW_0570, SW_1236, SW_1065, SW_1020, SW_1054, SW_1398, SW_1032, SW_1197, SW_1114, SW_0802, SW_0099, SW_1305, SW_1269, SW_0507, SW_0226, SW_0785, SW_1253, SW_1547, SW_0525, SW_0062, SW_1043, SW_1233, SW_0554, SW_1370, SW_0203, SW_0701, SW_1435, SW_0621, SW_1295, SW_1327, SW_1472, SW_1340, SW_0120, SW_1482, SW_1415, SW_0775, SW_0618, SW_1101, SW_0101, SW_1332, SW_1112, SW_1510, SW_0004, SW_0269, SW_0147, SW_0088, SW_1157, SW_1520, SW_0820, SW_1384, SW_0603, SW_1073, SW_0624, SW_1511, SW_0836, SW_0090, SW_1430

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)

esv2764082

Frequency

Sample Size	1109
Observed Gain	1
Observed Loss	74
Observed Complex	0
Frequency	n/a