Variant Details

Variant: esv14781

Internal ID

11032015

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr13:113841402..113842257	hg38	UCSC Ensembl
Inner	chr13:114544375..114545230	hg19	UCSC Ensembl
Inner	chr13:113568713..113569568	hg18	UCSC Ensembl

Cytoband

13q34

Allele length

Assembly	Allele length
hg38	856
hg19	856
hg18	856

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv27370

Supporting Variants

essv66481, essv34505

Samples

NA18502, NA12828

Known Genes

GAS6, GAS6-AS1

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)

esv14781

Frequency

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