Variant Details

Variant: esv2760555

Internal ID

10027918

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr11:134282136..134860776	hg38	UCSC Ensembl
Inner	chr11:134152030..134730670	hg19	UCSC Ensembl
Inner	chr11:133657240..134235880	hg18	UCSC Ensembl

Cytoband

11q25

Allele length

Assembly	Allele length
hg38	578641
hg19	578641
hg18	578641

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6996342, essv6996346, essv6996340, essv6996344, essv6996341, essv6996339, essv6996343

Samples

SW_1000, SW_0815, SW_1569, SW_1149, SW_1435, SW_1380, SW_1137

Known Genes

B3GAT1, GLB1L2, GLB1L3, LOC283177

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)

esv2760555

Frequency

Sample Size	1109
Observed Gain	4
Observed Loss	3
Observed Complex	0
Frequency	n/a