Variant Details

Variant: esv2763931

Internal ID

10031281

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:180951710..181100455	hg38	UCSC Ensembl
Inner	chr5:180378710..180527455	hg19	UCSC Ensembl
Inner	chr5:180311316..180460061	hg18	UCSC Ensembl

Cytoband

5q35.3

Allele length

Assembly	Allele length
hg38	148746
hg19	148746
hg18	148746

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7031763, essv7031777, essv7031755, essv7031764, essv7031754, essv7031748, essv7031756, essv7031744, essv7031737, essv7031725, essv7031762, essv7031738, essv7031751, essv7031776, essv7031770, essv7031717, essv7031792, essv7031724, essv7031747, essv7031736, essv7031727, essv7031793, essv7031752, essv7031715, essv7031729, essv7031760, essv7031778, essv7031767, essv7031787, essv7031743, essv7031771, essv7031780, essv7031786, essv7031730, essv7031728, essv7031741, essv7031732, essv7031740, essv7031785, essv7031766, essv7031735, essv7031772, essv7031774, essv7031726, essv7031782, essv7031750, essv7031722, essv7031718, essv7031749, essv7031781, essv7031731, essv7031758, essv7031788, essv7031719, essv7031783, essv7031761, essv7031773, essv7031711, essv7031759, essv7031753, essv7031720, essv7031775, essv7031739, essv7031742, essv7031789, essv7031713, essv7031716, essv7031714, essv7031733, essv7031791, essv7031784, essv7031769, essv7031721, essv7031765

Samples

SW_1214, SW_1266, SW_1441, SW_0841, SW_0509, SW_1086, SW_0119, SW_1298, SW_0059, SW_1315, SW_1396, SW_1464, SW_0115, SW_1100, SW_1354, SW_1097, SW_0804, SW_0570, SW_1261, SW_1512, SW_1211, SW_1167, SW_1448, SW_1547, SW_0525, SW_0077, SW_1134, SW_1523, SW_1333, SW_0819, SW_0787, SW_0554, SW_1120, SW_1239, SW_1088, SW_0203, SW_1198, SW_1417, SW_0701, SW_1428, SW_0215, SW_0843, SW_0165, SW_0017, SW_0663, SW_0659, SW_1193, SW_0254, SW_1101, SW_0379, SW_0101, SW_1306, SW_1004, SW_0004, SW_1318, SW_1422, SW_1475, SW_0651, SW_1163, SW_0872, SW_1520, SW_1463, SW_1416, SW_1039, SW_0791, SW_1180, SW_0049, SW_0009, SW_1087, SW_1137, SW_1386, SW_0690, SW_1267

Known Genes

BTNL3, BTNL9, MIR8089

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)

esv2763931

Frequency

Sample Size	1109
Observed Gain	4
Observed Loss	70
Observed Complex	0
Frequency	n/a