Variant Details

Variant: esv14514

Internal ID

11378433

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:61966150..62113980	hg38	UCSC Ensembl
Inner	chr9:45102302..45250132	hg19	UCSC Ensembl
Inner	chr9:45042298..45190128	hg18	UCSC Ensembl

Cytoband

9p11.2

Allele length

Assembly	Allele length
hg38	147831
hg19	147831
hg18	147831

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv24407

Supporting Variants

essv70032, essv64916, essv83178, essv40089, essv43813, essv35367, essv58417, essv80877, essv74514

Samples

NA11995, NA12004, NA19190, NA12044, NA12878, NA18907, NA18909, NA19108, NA19240

Known Genes

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)

esv14514

Frequency

Sample Size	40
Observed Gain	7
Observed Loss	2
Observed Complex	0
Frequency	n/a