Variant Details

Variant: esv11114

Internal ID

11028348

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:7202809..7354908	hg38	UCSC Ensembl
Inner	chr8:7060331..7212430	hg19	UCSC Ensembl
Inner	chr8:7047741..7199840	hg18	UCSC Ensembl

Cytoband

8p23.1

Allele length

Assembly	Allele length
hg38	152100
hg19	152100
hg18	152100

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv21583

Supporting Variants

essv32727, essv37665, essv34189, essv43623, essv48108, essv35291, essv41268

Samples

NA18502, NA18861, NA18907, NA19257, NA18909, NA19147, NA18505

Known Genes

DEFB109P1B, FAM66B, LINC00965, USP17L1P, USP17L4

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)

esv11114

Frequency

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