Variant Details

Variant: esv20757

Internal ID

11384676

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:198123437..198168266	hg38	UCSC Ensembl
Inner	chr3:197850308..197895137	hg19	UCSC Ensembl
Inner	chr3:199334705..199379534	hg18	UCSC Ensembl

Cytoband

3q29

Allele length

Assembly	Allele length
hg38	44830
hg19	44830
hg18	44830

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv26652

Supporting Variants

essv68676, essv53602, essv35915, essv58123, essv33922, essv83619

Samples

NA18502, NA18508, NA19190, NA18907, NA18858, NA19108

Known Genes

FAM157A

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)

esv20757

Frequency

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