Variant Details

Variant: esv28633

Internal ID

11045866

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:71753024..71755305	hg38	UCSC Ensembl
Inner	chr3:71802175..71804456	hg19	UCSC Ensembl
Inner	chr3:71884865..71887146	hg18	UCSC Ensembl

Cytoband

3p13

Allele length

Assembly	Allele length
hg38	2282
hg19	2282
hg18	2282

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv18777, esv18959, esv19554

Samples

NA11995, NA19190, NA12156, NA11993, NA12489, NA12749

Known Genes

EIF4E3, GPR27

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)

esv28633

Frequency

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