Variant Details

Variant: esv2760959

Internal ID

10377266

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:163917468..164954493	hg38	UCSC Ensembl
Inner	chr5:163344474..164381499	hg19	UCSC Ensembl
Inner	chr5:163277052..164314077	hg18	UCSC Ensembl

Cytoband

5q34

Allele length

Assembly	Allele length
hg38	1037026
hg19	1037026
hg18	1037026

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7013314, essv7013309, essv7013315, essv7013310, essv7013316, essv7013311, essv7013313

Samples

RW_0093, RW_0226, RW_0504, RW_0551, RW_0253, RW_0077, RW_0155

Known Genes

LOC101927835, LOC102546299

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)

esv2760959

Frequency

Sample Size	1109
Observed Gain	2
Observed Loss	5
Observed Complex	0
Frequency	n/a