Variant Details

Variant: esv2760986

Internal ID

10377293

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:147800920..147805903	hg38	UCSC Ensembl
Inner	chr5:147180483..147185466	hg19	UCSC Ensembl
Inner	chr5:147160676..147165659	hg18	UCSC Ensembl

Cytoband

5q32

Allele length

Assembly	Allele length
hg38	4984
hg19	4984
hg18	4984

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7013143, essv7013144

Samples

RW_0203, RW_0249

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)

esv2760986

Frequency

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