Variant Details

Variant: esv16756

Internal ID

11033990

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:143741683..143875498	hg38	UCSC Ensembl
Inner	chr7:143438776..143572591	hg19	UCSC Ensembl
Inner	chr7:143069709..143203524	hg18	UCSC Ensembl

Cytoband

7q35

Allele length

Assembly	Allele length
hg38	133816
hg19	133816
hg18	133816

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv29816

Supporting Variants

essv33915, essv78344, essv35853, essv60338, essv83528, essv74462, essv55291, essv68110, essv45261, essv64140

Samples

NA18502, NA12004, NA19190, NA18907, NA07045, NA19099, NA06985, NA18523, NA18858, NA19129

Known Genes

CTAGE6, FAM115A, LOC154761

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)

esv16756

Frequency

Sample Size	40
Observed Gain	6
Observed Loss	4
Observed Complex	0
Frequency	n/a