A curated catalogue of human genomic structural variation




Variant Details

Variant: essv76568



Internal ID11003332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150086692..150112407hg38UCSC Ensembl
Innerchr5:149466255..149491970hg19UCSC Ensembl
Innerchr5:149446448..149472163hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3825716
hg1925716
hg1825716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv15312
Supporting Variants
SamplesNA18511
Known GenesCSF1R
MethodOligo aCGH
AnalysisSegment 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.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)essv76568
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer