Variant Details

Variant: esv2761270

Internal ID

10377577

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:112893735..112902019	hg38	UCSC Ensembl
Inner	chr9:115656015..115664299	hg19	UCSC Ensembl
Inner	chr9:114695836..114704120	hg18	UCSC Ensembl

Cytoband

9q32

Allele length

Assembly	Allele length
hg38	8285
hg19	8285
hg18	8285

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7018041, essv7018040

Samples

RW_0262, RW_0248

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)

esv2761270

Frequency

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