Variant Details

Variant: esv2762556

Internal ID

10029906

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:150141049..150209450	hg38	UCSC Ensembl
Inner	chr5:149520612..149589013	hg19	UCSC Ensembl
Inner	chr5:149500805..149569206	hg18	UCSC Ensembl

Cytoband

5q32

Allele length

Assembly	Allele length
hg38	68402
hg19	68402
hg18	68402

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7013159

Samples

RW_0637

Known Genes

CDX1, PDGFRB, SLC6A7

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)

esv2762556

Frequency

Sample Size	1109
Observed Gain	1
Observed Loss	0
Observed Complex	0
Frequency	n/a