Variant Details

Variant: esv2763643

Internal ID

10376323

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:63992753..64054203	hg38	UCSC Ensembl
Inner	chr2:64219887..64281337	hg19	UCSC Ensembl
Inner	chr2:64073391..64134841	hg18	UCSC Ensembl

Cytoband

2p14

Allele length

Assembly	Allele length
hg38	61451
hg19	61451
hg18	61451

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7014700, essv7014689

Samples

SW_1190, SW_0160

Known Genes

VPS54

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)

esv2763643

Frequency

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