Variant Details

Variant: esv25717

Internal ID

11042950

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:21396897..21937805	hg38	UCSC Ensembl
Inner	chr16:21408218..21949126	hg19	UCSC Ensembl
Inner	chr16:21315719..21856627	hg18	UCSC Ensembl

Cytoband

16p12.1

Allele length

Assembly	Allele length
hg38	540909
hg19	540909
hg18	540909

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv20712, esv11530, esv19523, esv17601, esv20997, esv15471, esv20752

Samples

NA11995, NA18861, NA18508, NA12414, NA11931, NA19190, NA18916, NA12156, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA19114, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA18505, NA19129, NA12006

Known Genes

IGSF6, LOC100190986, LOC100271836, METTL9, NPIPB3, OTOA, RRN3P1, SLC7A5P2

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)

esv25717

Frequency

Sample Size	40
Observed Gain	32
Observed Loss	1
Observed Complex	0
Frequency	n/a