Variant Details

Variant: esv24044

Internal ID

11387963

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:42293209..42459215	hg38	UCSC Ensembl
Inner	chr9:44511898..44676613	hg19	UCSC Ensembl
Inner	chr9:44451894..44616609	hg18	UCSC Ensembl

Cytoband

9p11.2

Allele length

Assembly	Allele length
hg38	166007
hg19	164716
hg18	164716

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv16482, esv11411, esv13788, esv10003, esv15972, esv15151, esv14113

Samples

NA18861, NA12004, NA19190, NA12287, NA12044, NA12828, NA12489, NA19114, NA11894, NA12239, NA19099, NA18523, NA18909, NA19147, NA07037, NA12749

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)

esv24044

Frequency

Sample Size	40
Observed Gain	7
Observed Loss	10
Observed Complex	0
Frequency	n/a