Variant Details

Variant: esv2764030

Internal ID

10378066

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:144176284..144377836	hg38	UCSC Ensembl
Inner	chr7:143873377..144074929	hg19	UCSC Ensembl
Inner	chr7:143504310..143705862	hg18	UCSC Ensembl

Cytoband

7q35

Allele length

Assembly	Allele length
hg38	201553
hg19	201553
hg18	201553

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv152e203

Supporting Variants

essv6991885, essv6991842, essv6991825, essv6991903, essv6991937, essv6991854, essv6991941, essv6991834, essv6991851, essv6991926, essv6991940, essv6991862, essv6991935, essv6991909, essv6991931, essv6991924, essv6991919, essv6991894, essv6991853, essv6991947, essv6991884, essv6991915, essv6991939, essv6991938, essv6991921, essv6991860, essv6991946, essv6991828, essv6991848, essv6991831, essv6991873, essv6991841, essv6991902, essv6991827, essv6991886, essv6991895, essv6991852, essv6991908, essv6991870, essv6991887, essv6991918, essv6991835, essv6991900, essv6991845, essv6991897, essv6991866, essv6991932, essv6991847, essv6991925, essv6991905, essv6991865, essv6991930, essv6991911, essv6991867, essv6991836, essv6991826, essv6991943, essv6991927, essv6991906, essv6991869, essv6991914, essv6991874, essv6991888, essv6991876, essv6991899, essv6991891, essv6991907, essv6991892, essv6991846, essv6991896, essv6991863, essv6991849, essv6991928, essv6991913, essv6991904, essv6991942, essv6991878, essv6991877, essv6991830, essv6991920, essv6991929, essv6991933, essv6991889, essv6991917, essv6991832, essv6991922, essv6991880, essv6991883, essv6991829, essv6991916, essv6991893, essv6991850, essv6991837, essv6991898, essv6991871, essv6991861, essv6991824, essv6991936, essv6991882, essv6991944, essv6991823, essv6991881, essv6991838, essv6991875, essv6991839, essv6991859, essv6991840, essv6991872, essv6991864, essv6991910, essv6991843, essv6991858

Samples

SW_1224, SW_1290, SW_1125, SW_0831, SW_1539, SW_0057, SW_0285, SW_0171, SW_1377, SW_1192, SW_1086, SW_1021, SW_0835, SW_1433, SW_1166, SW_1199, SW_0146, SW_0072, SW_1436, SW_1076, SW_0063, SW_1425, SW_1457, SW_1324, SW_0202, SW_0801, SW_0191, SW_1330, SW_0804, SW_1236, SW_1049, SW_1020, SW_0640, SW_1054, SW_0029, SW_1216, SW_1379, SW_0173, SW_0020, SW_1013, SW_1252, SW_0888, SW_1361, SW_1570, SW_0351, SW_1055, SW_0047, SW_1263, SW_0060, SW_0552, SW_1547, SW_0862, SW_1153, SW_0817, SW_1165, SW_0268, SW_1102, SW_1333, SW_0296, SW_1107, SW_0789, SW_0661, SW_1053, SW_0058, SW_1239, SW_1122, SW_0203, SW_1198, SW_1179, SW_1103, SW_1093, SW_0861, SW_1341, SW_1295, SW_1220, SW_0577, SW_1182, SW_1327, SW_1094, SW_1440, SW_0871, SW_1193, SW_0775, SW_0594, SW_1249, SW_1176, SW_0253, SW_1306, SW_0814, SW_1326, SW_1478, SW_0269, SW_1345, SW_0592, SW_1349, SW_0872, SW_1373, SW_1571, SW_0586, SW_0009, SW_1308, SW_1279, SW_1273, SW_0159, SW_1152, SW_1484, SW_0690, SW_0585, SW_1364, SW_0100, SW_0675, SW_0844

Known Genes

ARHGEF34P, ARHGEF35, ARHGEF5, CTAGE4, CTAGE8, OR2A1, OR2A20P, OR2A42, OR2A7, OR2A9P, RNU6-57P

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)

esv2764030

Frequency

Sample Size	1109
Observed Gain	58
Observed Loss	54
Observed Complex	0
Frequency	n/a