Variant Details

Variant: esv20630

Internal ID

11384549

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:144337671..144377751	hg38	UCSC Ensembl
Inner	chr7:144034764..144074844	hg19	UCSC Ensembl
Inner	chr7:143665697..143705777	hg18	UCSC Ensembl

Cytoband

7q35

Allele length

Assembly	Allele length
hg38	40081
hg19	40081
hg18	40081

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv24292

Supporting Variants

essv80799, essv81583, essv78329, essv38898, essv71634

Samples

NA11995, NA12287, NA19114, NA19225, NA06985

Known Genes

ARHGEF5, 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)

esv20630

Frequency

Sample Size	40
Observed Gain	2
Observed Loss	3
Observed Complex	0
Frequency	n/a