Variant Details

Variant: esv2763645

Internal ID

10376325

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:81969821..82093303	hg38	UCSC Ensembl
Inner	chr2:82196945..82320427	hg19	UCSC Ensembl
Inner	chr2:82050456..82173938	hg18	UCSC Ensembl

Cytoband

2p12

Allele length

Assembly	Allele length
hg38	123483
hg19	123483
hg18	123483

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7015133, essv7015100, essv7015089, essv7015044, essv7015078, essv7015066, essv7015111, essv7015122, essv7015055

Samples

SW_0354, SW_1184, SW_0116, SW_1082, SW_1104, SW_1120, SW_0628, SW_1182, SW_1067

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)

esv2763645

Frequency

Sample Size	1109
Observed Gain	9
Observed Loss	0
Observed Complex	0
Frequency	n/a