Variant Details

Variant: esv12266

Internal ID

11376185

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr10:106190929..106191842	hg38	UCSC Ensembl
Inner	chr10:107950687..107951600	hg19	UCSC Ensembl
Inner	chr10:107940677..107941590	hg18	UCSC Ensembl

Cytoband

10q25.1

Allele length

Assembly	Allele length
hg38	914
hg19	914
hg18	914

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv26346

Supporting Variants

essv45191, essv49999, essv78925, essv51830, essv76000, essv39369, essv46767, essv57131, essv41327, essv41093, essv82696, essv71357, essv69463, essv55109, essv68837, essv62730, essv65339, essv53723, essv48614, essv61608, essv36729, essv72361, essv76943, essv66932, essv56372, essv44795, essv33105, essv42727, essv80494, essv34741, essv35509

Samples

NA18502, NA11995, NA18861, NA18508, NA12414, NA19190, NA18916, NA12287, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA11894, NA12239, NA15510, NA19099, NA19225, NA18858, NA18909, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511, NA12776

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)

esv12266

Frequency

Sample Size	40
Observed Gain	17
Observed Loss	14
Observed Complex	0
Frequency	n/a