Variant Details

Variant: esv2763754

Internal ID

10377790

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:37935926..37947245	hg38	UCSC Ensembl
Inner	chr3:37977417..37988736	hg19	UCSC Ensembl
Inner	chr3:37952421..37963740	hg18	UCSC Ensembl

Cytoband

3p22.2

Allele length

Assembly	Allele length
hg38	11320
hg19	11320
hg18	11320

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7026833, essv7027047, essv7026933, essv7027051, essv7026955, essv7027052, essv7026944, essv7026745, essv7026667, essv7026722, essv7027075, essv7027050, essv7027054, essv7026989, essv7027063, essv7026867, essv7026922, essv7027058, essv7027044, essv7027065, essv7026700, essv7026689, essv7027045, essv7027011, essv7026967, essv7027059, essv7026756, essv7027071, essv7027060, essv7027077, essv7027070, essv7026645, essv7027043, essv7027066, essv7026656, essv7027053, essv7026811, essv7026878, essv7027022, essv7026800, essv7027055, essv7027072, essv7027069, essv7026634, essv7027048, essv7026900, essv7026767, essv7027062, essv7027056, essv7027073, essv7026789, essv7026844, essv7026711, essv7027074, essv7027000, essv7026778, essv7027067, essv7027049, essv7026856, essv7026678, essv7026822, essv7026733, essv7027033, essv7026889, essv7026911, essv7027064, essv7026978, essv7027076, essv7027061

Samples

SW_0638, SW_1290, SW_1372, SW_1539, SW_0057, SW_1366, SW_0030, SW_1433, SW_0158, SW_0146, SW_0003, SW_0102, SW_1051, SW_0578, SW_0341, SW_1184, SW_1348, SW_1330, SW_0834, SW_0020, SW_1023, SW_0800, SW_0032, SW_0015, SW_1361, SW_1121, SW_0085, SW_0060, SW_0552, SW_1309, SW_0862, SW_1468, SW_0757, SW_1144, SW_1370, SW_0628, SW_1465, SW_0631, SW_1198, SW_1029, SW_1414, SW_1179, SW_1506, SW_0183, SW_0165, SW_0120, SW_1089, SW_1378, SW_1510, SW_1004, SW_0190, SW_0592, SW_0606, SW_0651, SW_1480, SW_1163, SW_1416, SW_0043, SW_1571, SW_0822, SW_1217, SW_0586, SW_0674, SW_1386, SW_1229, SW_0627, SW_1381, SW_0090, SW_1430

Known Genes

CTDSPL

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)

esv2763754

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	69
Observed Complex	0
Frequency	n/a