Variant Details

Variant: esv20715

Internal ID

11037949

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:106235567..106330377	hg38	UCSC Ensembl
Inner	chr14:106692176..106786629	hg19	UCSC Ensembl
Inner	chr14:105763221..105857674	hg18	UCSC Ensembl

Cytoband

14q32.33

Allele length

Assembly	Allele length
hg38	94811
hg19	94454
hg18	94454

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv27023

Supporting Variants

essv47588, essv41880, essv43919, essv72839, essv61556, essv45957, essv68044, essv39789, essv36124, essv50411, essv77962, essv60234, essv40673, essv38529, essv62954

Samples

NA18861, NA12287, NA12878, NA18907, NA12239, NA15510, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA18517, NA18505, NA19129

Known Genes

LINC00226

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)

esv20715

Frequency

Sample Size	40
Observed Gain	15
Observed Loss	0
Observed Complex	0
Frequency	n/a