Variant Details

Variant: esv12350

Internal ID

11029584

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:18681276..18695489	hg38	UCSC Ensembl
Inner	chr14:19457753..19471966	hg19	UCSC Ensembl
Inner	chr14:18527753..18541966	hg18	UCSC Ensembl

Cytoband

14q11.1

Allele length

Assembly	Allele length
hg38	14214
hg19	14214
hg18	14214

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv23873

Supporting Variants

essv65320, essv49293, essv32613, essv78435, essv74717, essv52094, essv55481, essv61723, essv79303, essv37003, essv67214, essv81981

Samples

NA12004, NA12828, NA19114, NA11894, NA12239, NA19099, NA06985, NA19147, NA18517, NA19240, NA12749, NA12006

Known Genes

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)

esv12350

Frequency

Sample Size	40
Observed Gain	0
Observed Loss	12
Observed Complex	0
Frequency	n/a