Variant Details

Variant: esv18649

Internal ID

11382568

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:144180383..144377490	hg38	UCSC Ensembl
Inner	chr7:143877476..144074583	hg19	UCSC Ensembl
Inner	chr7:143508409..143705516	hg18	UCSC Ensembl

Cytoband

7q35

Allele length

Assembly	Allele length
hg38	197108
hg19	197108
hg18	197108

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv24292

Supporting Variants

essv33259, essv67409, essv63495, essv47363, essv79248, essv69702, essv56778, essv44954, essv83987, essv38745, essv79937, essv39818, essv62090, essv58930, essv52636, essv51116, essv50400, essv52821

Samples

NA11995, NA18861, NA18508, NA11931, NA19190, NA12287, NA12044, NA12828, NA12489, NA12239, NA15510, NA19257, NA19108, NA19147, NA18517, NA12749, NA12006, NA12776

Known Genes

ARHGEF34P, ARHGEF35, ARHGEF5, CTAGE4, CTAGE8, OR2A1, OR2A20P, OR2A42, OR2A7, OR2A9P, RNU6-57P

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)

esv18649

Frequency

Sample Size	40
Observed Gain	4
Observed Loss	14
Observed Complex	0
Frequency	n/a