Variant Details

Variant: esv25366

Internal ID

11042599

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:63542296..63918413	hg38	UCSC Ensembl
Inner	chr9:68138030..68514147	hg19	UCSC Ensembl
Inner	chr9:67627850..68003967	hg18	UCSC Ensembl

Cytoband

9q12

Allele length

Assembly	Allele length
hg38	376118
hg19	376118
hg18	376118

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv20620, esv11719, esv10977, esv12375, esv14201, esv16943, esv16957

Samples

NA11995, NA12414, NA12287, NA11993, NA11894, NA15510, NA18523, NA18909, NA18517, NA19240, NA19129, NA12776

Known Genes

LOC642236

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)

esv25366

Frequency

Sample Size	40
Observed Gain	11
Observed Loss	1
Observed Complex	0
Frequency	n/a