Variant Details

Variant: esv2760314

Internal ID

10376622

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr13:111937686..111942479	hg38	UCSC Ensembl
Inner	chr13:112592000..112596793	hg19	UCSC Ensembl
Inner	chr13:111640001..111644794	hg18	UCSC Ensembl

Cytoband

13q34

Allele length

Assembly	Allele length
hg38	4794
hg19	4794
hg18	4794

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7021827, essv7021826

Samples

RW_0113, RW_0234

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)

esv2760314

Frequency

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