Variant Details

Variant: esv26179

Internal ID

11043412

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:36349364..36356123	hg38	UCSC Ensembl
Inner	chr19:36840266..36847025	hg19	UCSC Ensembl
Inner	chr19:41532106..41538865	hg18	UCSC Ensembl

Cytoband

19q13.12

Allele length

Assembly	Allele length
hg38	6760
hg19	6760
hg18	6760

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv11683, esv10192

Samples

NA11995, NA18861, NA18508, NA12414, NA12004, NA19190, NA18916, NA12287, NA12156, NA12044, NA12828, NA11993, NA12489, NA18907, NA07045, NA19114, NA11894, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA19129, NA12006, NA18511

Known Genes

ZFP14

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)

esv26179

Frequency

Sample Size	40
Observed Gain	32
Observed Loss	0
Observed Complex	0
Frequency	n/a