Variant Details

Variant: esv12683

Internal ID

11029917

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:38861982..38875045	hg38	UCSC Ensembl
Inner	chr9:65857411..65870470	hg19	UCSC Ensembl
Inner	chr9:65597231..65610290	hg18	UCSC Ensembl

Cytoband

9q12

Allele length

Assembly	Allele length
hg38	13064
hg19	13060
hg18	13060

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv24325

Supporting Variants

essv52189, essv73301, essv55077, essv39291, essv80189, essv44235

Samples

NA11995, NA12287, NA12156, NA12489, NA19099, NA12006

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)

esv12683

Frequency

Sample Size	40
Observed Gain	0
Observed Loss	6
Observed Complex	0
Frequency	n/a