Variant Details

Variant: esv28860

Internal ID

11046093

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr15:72060960..72102947	hg38	UCSC Ensembl
Inner	chr15:72353301..72395288	hg19	UCSC Ensembl
Inner	chr15:70140355..70182342	hg18	UCSC Ensembl

Cytoband

15q23

Allele length

Assembly	Allele length
hg38	41988
hg19	41988
hg18	41988

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv11550, esv14544

Samples

NA18502, NA11995, NA18861, NA18508, NA19190, NA18916, NA12287, NA12156, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA18505, NA19129, NA18511, NA12776

Known Genes

MYO9A

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)

esv28860

Frequency

Sample Size	40
Observed Gain	33
Observed Loss	0
Observed Complex	0
Frequency	n/a