Variant Details

Variant: esv2763767

Internal ID

10031117

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:142102103..142382712	hg38	UCSC Ensembl
Inner	chr3:141820945..142101554	hg19	UCSC Ensembl
Inner	chr3:143303635..143584244	hg18	UCSC Ensembl

Cytoband

3q23

Allele length

Assembly	Allele length
hg38	280610
hg19	280610
hg18	280610

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7027867, essv7027868, essv7027866, essv7027865

Samples

SW_1257, SW_1126, SW_1571, SW_0352

Known Genes

GK5, TFDP2, XRN1

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)

esv2763767

Frequency

Sample Size	1109
Observed Gain	4
Observed Loss	0
Observed Complex	0
Frequency	n/a