Variant Details

Variant: dgv16e203

Internal ID

22760712

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr11:4215479..4363567	hg38	UCSC Ensembl
	chr11:4236709..4384797	hg19	UCSC Ensembl
	chr11:4193285..4341373	hg18	UCSC Ensembl

Cytoband

11p15.4

Allele length

Assembly	Allele length
hg38	148089
hg19	148089
hg18	148089

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2760621, esv2760194

Samples

SW_1125, SW_1242, SW_0831, SW_0285, RW_0196, SW_0620, RW_0099, SW_0102, RW_0538, SW_0164, RW_0152, RW_0141, SW_0191, SW_1232, SW_1294, RW_0319, RW_0181, RW_0098, SW_0834, SW_1013, SW_1512, SW_0815, RW_0271, RW_0125, RW_0624, SW_0702, RW_0174, SW_0786, RW_0115, SW_1456, RW_0003, RW_0131, RW_0024, RW_0544, RW_0616, RW_0293, RW_0540, SW_1355, SW_1408, RW_0103, SW_1009, RW_0545, SW_1504, RW_0171, RW_0065, SW_0058, RW_0280, RW_0221, SW_1411, SW_1417, RW_0204, SW_0641, RW_0587, RW_0625, SW_1295, SW_1278, SW_1471, RW_0289, RW_0067, RW_0667, RW_0120, SW_0339, SW_1368, SW_1306, SW_1346, RW_0278, SW_1071, RW_0669, SW_0190, RW_0663, RW_0190, SW_0186, RW_0013, RW_0048, SW_0626, SW_0147, RW_0275, RW_0229, SW_0634, SW_1551, RW_0170, SW_1217, RW_0079, SW_1384, RW_0263, RW_0191, SW_1073, RW_0590, RW_0060, RW_0248, SW_1208, SW_0836, SW_1430

Known Genes

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)

dgv16e203

Frequency

Sample Size	1109
Observed Gain	34
Observed Loss	59
Observed Complex	0
Frequency	n/a