Variant Details

Variant: esv9924

Internal ID

11394049

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:43961099..44041897	hg38	UCSC Ensembl
Inner	chr7:44000698..44081496	hg19	UCSC Ensembl
Inner	chr7:43967223..44048021	hg18	UCSC Ensembl

Cytoband

7p13

Allele length

Assembly	Allele length
hg38	80799
hg19	80799
hg18	80799

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv27186

Supporting Variants

essv59790, essv49144, essv45145, essv81915, essv62671, essv38440, essv49526, essv53460, essv76153, essv83778, essv33124, essv36726, essv36033, essv77424, essv58726, essv46400, essv70589, essv55620, essv77510, essv73134, essv68241, essv64668, essv80505, essv47517, essv40501, essv56637, essv79366, essv52118, essv34758, essv66340, essv62008, essv41438

Samples

NA18502, NA11995, NA18861, NA18508, NA12414, NA19190, NA18916, NA12489, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511, NA12776

Known Genes

LINC00957, POLR2J4, RASA4CP, SPDYE1

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)

esv9924

Frequency

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