Variant Details

Variant: esv9995

Internal ID

11047434

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:38175606..38256833	hg38	UCSC Ensembl
Inner	chr17:36331524..36412840	hg19	UCSC Ensembl
Inner	chr17:33584385..33666666	hg18	UCSC Ensembl

Cytoband

17q12

Allele length

Assembly	Allele length
hg38	81228
hg19	81317
hg18	82282

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv28567

Supporting Variants

essv61913, essv36571, essv65281, essv40398, essv55663, essv72562, essv42438, essv51655, essv83630, essv33731

Samples

NA18502, NA11931, NA19190, NA12878, NA11894, NA12239, NA19099, NA19225, NA19240, NA18505

Known Genes

LOC440434, TBC1D3, TBC1D3C, TBC1D3F, TBC1D3H

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)

esv9995

Frequency

Sample Size	40
Observed Gain	9
Observed Loss	1
Observed Complex	0
Frequency	n/a