Variant Details

Variant: esv18842

Internal ID

11382761

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:59640569..59641431	hg38	UCSC Ensembl
Inner	chr1:60106241..60107103	hg19	UCSC Ensembl
Inner	chr1:59878829..59879691	hg18	UCSC Ensembl

Cytoband

1p32.1

Allele length

Assembly	Allele length
hg38	863
hg19	863
hg18	863

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv22806

Supporting Variants

essv59073, essv66640, essv76850, essv32325, essv55383, essv64478, essv46593, essv77850, essv76369, essv53233, essv49773, essv39155, essv82241, essv38848, essv74540, essv73686, essv72910, essv70479, essv52043, essv35251, essv61345, essv57732, essv67616, essv40458, essv69835, essv79292, essv66287, essv37146, essv45148, essv63399, essv51588, essv80433

Samples

NA11995, NA18508, NA12414, NA11931, NA12004, NA18916, NA12287, NA12156, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18858, NA19108, NA19147, NA18517, NA19240, NA12749, NA19129, NA12006, NA18511

Known Genes

FGGY

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)

esv18842

Frequency

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