Variant Details

Variant: esv21173

Internal ID

11385092

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:167933050..168198220	hg38	UCSC Ensembl
Inner	chr6:168333730..168598900	hg19	UCSC Ensembl
Inner	chr6:168076579..168341749	hg18	UCSC Ensembl

Cytoband

6q27

Allele length

Assembly	Allele length
hg38	265171
hg19	265171
hg18	265171

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv23528

Supporting Variants

essv78281, essv37408

Samples

NA11894, NA06985

Known Genes

FRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4

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)

esv21173

Frequency

Sample Size	40
Observed Gain	2
Observed Loss	0
Observed Complex	0
Frequency	n/a