Variant Details

Variant: esv16681

Internal ID

11033915

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:105593376..105682584	hg38	UCSC Ensembl
Inner	chr14:106059713..106148921	hg19	UCSC Ensembl
Inner	chr14:105130758..105219966	hg18	UCSC Ensembl

Cytoband

14q32.33

Allele length

Assembly	Allele length
hg38	89209
hg19	89209
hg18	89209

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv27023

Supporting Variants

essv72602, essv69560, essv39403, essv82536, essv73170, essv79106, essv75464, essv75030

Samples

NA12414, NA12004, NA12287, NA12156, NA12044, NA19114, NA19225, NA12749

Known Genes

ELK2AP, MIR8071-1, MIR8071-2

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)

esv16681

Frequency

Sample Size	40
Observed Gain	7
Observed Loss	1
Observed Complex	0
Frequency	n/a