Variant Details

Variant: esv10226

Internal ID

11027460

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:114320556..114336003	hg38	UCSC Ensembl
Inner	chr9:117082836..117098283	hg19	UCSC Ensembl
Inner	chr9:116122657..116138104	hg18	UCSC Ensembl

Cytoband

9q32

Allele length

Assembly	Allele length
hg38	15448
hg19	15448
hg18	15448

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv22321

Supporting Variants

essv36480, essv74569, essv47367, essv63023

Samples

NA18861, NA12004, NA18907, NA15510

Known Genes

AKNA, ORM1, ORM2

Method

Oligo aCGH

Analysis

Segment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.

Platform

Sanger H. Sapiens 42mCGH Array 5781_53 726K v1

Comments

Reference

Conrad_et_al_2009

Pubmed ID

19812545

Accession Number(s)

esv10226

Frequency

Sample Size	40
Observed Gain	4
Observed Loss	0
Observed Complex	0
Frequency	n/a