Variant Details

Variant: esv23343

Internal ID

11387262

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:108217849..108554686	hg38	UCSC Ensembl
Inner	chr1:108760471..109097308	hg19	UCSC Ensembl
Inner	chr1:108561994..108898831	hg18	UCSC Ensembl

Cytoband

1p13.3

Allele length

Assembly	Allele length
hg38	336838
hg19	336838
hg18	336838

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv18355, esv10264, esv11547, esv13251

Samples

NA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA12287, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA18511

Known Genes

NBPF4, NBPF6

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)

esv23343

Frequency

Sample Size	40
Observed Gain	33
Observed Loss	3
Observed Complex	0
Frequency	n/a