Variant Details

Variant: esv17196

Internal ID

11381115

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:40481030..40482184	hg38	UCSC Ensembl
Inner	chr12:40874832..40875986	hg19	UCSC Ensembl
Inner	chr12:39161099..39162253	hg18	UCSC Ensembl

Cytoband

12q12

Allele length

Assembly	Allele length
hg38	1155
hg19	1155
hg18	1155

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv25845

Supporting Variants

essv75761, essv81473, essv51171, essv48683, essv55809, essv52620, essv79327, essv45695

Samples

NA12414, NA11931, NA19114, NA07037, NA12749, NA19129, NA12006, NA12776

Known Genes

MUC19

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)

esv17196

Frequency

Sample Size	40
Observed Gain	0
Observed Loss	8
Observed Complex	0
Frequency	n/a