A curated catalogue of human genomic structural variation




Variant Details

Variant: essv77616



Internal ID10976046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82670502..82672514hg38UCSC Ensembl
Innerchr17:80628378..80630390hg19UCSC Ensembl
Innerchr17:78221667..78223679hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382013
hg192013
hg182013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv15303
Supporting Variants
SamplesNA06985
Known GenesRAB40B
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)essv77616
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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