Variant Details

Variant: esv11911

Internal ID

11029145

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:143519431..143874807	hg38	UCSC Ensembl
Inner	chr7:143216524..143571900	hg19	UCSC Ensembl
Inner	chr7:142926646..143202833	hg18	UCSC Ensembl

Cytoband

7q35

Allele length

Assembly	Allele length
hg38	355377
hg19	355377
hg18	276188

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv29816

Supporting Variants

essv47542, essv37975, essv42305, essv32198, essv56217, essv71297

Samples

NA18861, NA18916, NA19257, NA19147, NA18505, NA12776

Known Genes

CTAGE15, CTAGE6, EPHA1-AS1, FAM115A, FAM115C, 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)

esv11911

Frequency

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