Variant Details

Variant: dgv111e203

Internal ID

20126336

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr3:189642489..189656568	hg38	UCSC Ensembl
	chr3:189360278..189374357	hg19	UCSC Ensembl
	chr3:190842972..190857051	hg18	UCSC Ensembl

Cytoband

3q28

Allele length

Assembly	Allele length
hg38	14080
hg19	14080
hg18	14080

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2760784, esv2763710

Samples

SW_0638, SW_1290, SW_1539, RW_0635, RW_0095, SW_1210, RW_0591, SW_0030, SW_1064, SW_0240, RW_0553, RW_0105, SW_0885, RW_0158, RW_0010, RW_0007, SW_1436, RW_0262, SW_0677, RW_0268, SW_0607, RW_0178, SW_1425, SW_1105, RW_0141, SW_0771, SW_0191, RW_0559, SW_1232, SW_0570, SW_0874, RW_0192, RW_0189, RW_0180, RW_0658, RW_0181, RW_0098, SW_1129, SW_0173, RW_0614, SW_0099, SW_0800, RW_0137, SW_0888, RW_0624, RW_0503, SW_0200, SW_1431, SW_0869, SW_0085, SW_0141, SW_1126, RW_0115, RW_0358, RW_0502, SW_0295, RW_0017, RW_0570, SW_1288, RW_0230, RW_0623, SW_0019, RW_0637, SW_0757, RW_0171, RW_0065, RW_0576, SW_0008, SW_1095, SW_0856, SW_0554, RW_0552, RW_0002, SW_1162, SW_0703, SW_0847, RW_0515, RW_0222, RW_0625, RW_0534, SW_1295, RW_0251, SW_0663, RW_0067, RW_0249, RW_0106, RW_0609, SW_1249, SW_0653, SW_0814, SW_1510, RW_0507, RW_0080, RW_0142, SW_0103, SW_0524, SW_1116, SW_0673, SW_0651, RW_0220, RW_0119, SW_1096, RW_0183, RW_0154, SW_0579, RW_0627, RW_0518, SW_0160, RW_0014, RW_0263, RW_0033, SW_0857, RW_0581, RW_0110, RW_0072, RW_0139, SW_1026, SW_0836

Known Genes

TP63

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)

dgv111e203

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	118
Observed Complex	0
Frequency	n/a