Variant Details

Variant: esv21125

Internal ID

11385044

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:191346942..191353843	hg38	UCSC Ensembl
Inner	chr3:191064731..191071632	hg19	UCSC Ensembl
Inner	chr3:192547425..192554326	hg18	UCSC Ensembl

Cytoband

3q28

Allele length

Assembly	Allele length
hg38	6902
hg19	6902
hg18	6902

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv24246

Supporting Variants

essv59944, essv67772, essv46575, essv38518, essv61218, essv72335, essv51883, essv50312, essv53248, essv54672, essv49197, essv77648, essv40043, essv34464, essv80477, essv66188, essv58689, essv41993, essv44034, essv47919, essv35189, essv33162, essv79245, essv81338

Samples

NA18502, NA11995, NA18861, NA18508, NA12878, NA18907, NA19114, NA12239, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006

Known Genes

CCDC50

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)

esv21125

Frequency

Sample Size	40
Observed Gain	24
Observed Loss	0
Observed Complex	0
Frequency	n/a