Variant Details

Variant: esv29530

Internal ID

11046763

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr21:43550315..43553611	hg38	UCSC Ensembl
Inner	chr21:44970196..44973492	hg19	UCSC Ensembl
Inner	chr21:43794624..43797920	hg18	UCSC Ensembl

Cytoband

21q22.3

Allele length

Assembly	Allele length
hg38	3297
hg19	3297
hg18	3297

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv12733

Samples

NA18861, NA18508, NA11931, NA12004, NA19190, NA18916, NA12156, NA12044, NA11993, NA12489, NA12878, NA18907, NA19114, NA11894, NA12239, NA15510, NA19225, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA12006, NA18511, NA12776

Known Genes

HSF2BP

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)

esv29530

Frequency

Sample Size	40
Observed Gain	29
Observed Loss	0
Observed Complex	0
Frequency	n/a