Variant Details

Variant: esv2760178

Internal ID

10027541

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr11:131631113..131649771	hg38	UCSC Ensembl
Inner	chr11:131501007..131519665	hg19	UCSC Ensembl
Inner	chr11:131006217..131024875	hg18	UCSC Ensembl

Cytoband

11q25

Allele length

Assembly	Allele length
hg38	18659
hg19	18659
hg18	18659

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7020295, essv7020297, essv7020301, essv7020298, essv7020294, essv7020296, essv7020302

Samples

RW_0243, RW_0201, RW_0593, RW_0575, RW_0621, RW_0061, RW_0229

Known Genes

NTM

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)

esv2760178

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	7
Observed Complex	0
Frequency	n/a