Variant Details

Variant: esv26380

Internal ID

11390299

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr11:34150545..34152640	hg38	UCSC Ensembl
Inner	chr11:34172092..34174187	hg19	UCSC Ensembl
Inner	chr11:34128668..34130763	hg18	UCSC Ensembl

Cytoband

11p13

Allele length

Assembly	Allele length
hg38	2096
hg19	2096
hg18	2096

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv20629

Samples

NA18502, NA11995, NA18508, NA12414, NA12004, NA19190, NA12156, NA12044, NA12828, NA12878, NA15510, NA19099, NA19257, NA19225, NA18909, NA19240, NA07037

Known Genes

ABTB2

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)

esv26380

Frequency

Sample Size	40
Observed Gain	0
Observed Loss	17
Observed Complex	0
Frequency	n/a