Variant Details

Variant: esv2763750

Internal ID

10377786

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:196515390..196551495	hg38	UCSC Ensembl
Inner	chr3:196242261..196278366	hg19	UCSC Ensembl
Inner	chr3:197726658..197762763	hg18	UCSC Ensembl

Cytoband

3q29

Allele length

Assembly	Allele length
hg38	36106
hg19	36106
hg18	36106

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7028507, essv7028508

Samples

SW_1058, SW_1008

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)

esv2763750

Frequency

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