Variant Details

Variant: esv2761253

Internal ID

10028615

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:113092071..113122780	hg38	UCSC Ensembl
Inner	chr9:115854351..115885060	hg19	UCSC Ensembl
Inner	chr9:114894172..114924881	hg18	UCSC Ensembl

Cytoband

9q32

Allele length

Assembly	Allele length
hg38	30710
hg19	30710
hg18	30710

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7018050, essv7018065, essv7018051, essv7018046, essv7018056, essv7018047, essv7018048, essv7018059, essv7018063, essv7018061, essv7018053, essv7018060, essv7018054, essv7018049, essv7018068, essv7018058, essv7018043, essv7018052, essv7018062, essv7018045, essv7018057, essv7018067, essv7018064

Samples

RW_0213, RW_0520, RW_0325, RW_0284, RW_0090, RW_0221, RW_0179, RW_0578, RW_0571, RW_0623, RW_0144, RW_0544, RW_0158, RW_0210, RW_0632, RW_0267, RW_0004, RW_0061, RW_0625, RW_0048, RW_0254, RW_0056, RW_0606

Known Genes

FAM225A, FAM225B

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)

esv2761253

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	23
Observed Complex	0
Frequency	n/a