Variant Details

Variant: esv15077

Internal ID

11032311

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:113565250..113604291	hg38	UCSC Ensembl
Inner	chr2:114322827..114361868	hg19	UCSC Ensembl
Inner	chr2:114039297..114078338	hg18	UCSC Ensembl

Cytoband

2q13

Allele length

Assembly	Allele length
hg38	39042
hg19	39042
hg18	39042

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv24774

Supporting Variants

essv42590, essv67799, essv41503, essv66339, essv32543, essv58769, essv38941, essv75820, essv79921, essv57091, essv55467, essv35842, essv56236, essv60724, essv82384, essv79624, essv46013, essv62342, essv61594, essv84110, essv66848, essv37185, essv48334

Samples

NA11995, NA12414, NA19190, NA12287, NA12828, NA11993, NA18907, NA19114, NA11894, NA12239, NA15510, NA19099, NA18523, NA18858, NA18909, NA19108, NA19147, NA19240, NA07037, NA12749, NA18505, NA19129, NA12776

Known Genes

DDX11L2, FAM138B, WASH2P

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)

esv15077

Frequency

Sample Size	40
Observed Gain	23
Observed Loss	0
Observed Complex	0
Frequency	n/a