Variant Details

Variant: dgv100e203

Internal ID

20126325

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr22:25232032..25612136	hg38	UCSC Ensembl
	chr22:25627999..26008103	hg19	UCSC Ensembl
	chr22:23957999..24338103	hg18	UCSC Ensembl

Cytoband

22q11.23

Allele length

Assembly	Allele length
hg38	380105
hg19	380105
hg18	380105

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2763705, esv2760720

Samples

SW_1441, RW_0169, SW_0831, SW_0057, SW_1030, RW_0046, RW_0256, RW_0152, SW_1304, RW_0312, SW_1184, RW_0560, RW_0205, SW_1138, RW_0192, SW_0660, SW_1398, SW_1447, SW_1098, SW_0834, SW_1252, SW_1124, SW_0800, SW_1254, SW_1082, RW_0115, SW_0047, RW_0003, RW_0357, SW_1393, RW_0570, RW_0267, SW_0062, RW_0528, RW_0161, SW_0375, RW_0230, RW_0631, RW_0272, RW_0539, SW_1134, RW_0643, RW_0143, SW_1040, SW_1411, RW_0601, RW_0077, RW_0593, SW_1481, SW_1075, SW_0641, SW_1414, RW_0302, RW_0029, RW_0587, RW_0250, RW_0288, RW_0653, SW_0271, RW_0597, SW_1059, RW_0008, RW_0578, SW_1265, RW_0106, SW_1249, SW_0379, RW_0073, RW_0507, RW_0663, RW_0562, SW_1074, SW_0883, SW_1301, SW_0018, RW_0108, SW_1520, SW_1373, RW_0584, RW_0170, RW_0031, SW_0586, SW_1384, SW_0100, RW_0532

Known Genes

ADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817

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)

dgv100e203

Frequency

Sample Size	1109
Observed Gain	53
Observed Loss	32
Observed Complex	0
Frequency	n/a