Variant Details

Variant: esv2760551

Internal ID

10376859

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:62514032..62533097	hg38	UCSC Ensembl
Inner	chr2:62741167..62760232	hg19	UCSC Ensembl
Inner	chr2:62594671..62613736	hg18	UCSC Ensembl

Cytoband

2p15

Allele length

Assembly	Allele length
hg38	19066
hg19	19066
hg18	19066

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7007674, essv7007670, essv7007671, essv7007676, essv7007675, essv7007673, essv7007672, essv7007680, essv7007677, essv7007669, essv7007679

Samples

RW_0356, RW_0099, RW_0104, RW_0226, RW_0629, RW_0082, RW_0616, RW_0568, RW_0061, RW_0587, RW_0020

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)

esv2760551

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	11
Observed Complex	0
Frequency	n/a