A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18994



Internal ID11382913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:62220627..62235486hg38UCSC Ensembl
Innerchr17:60297988..60312847hg19UCSC Ensembl
Innerchr17:57652770..57667629hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3814860
hg1914860
hg1814860
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27452
Supporting Variantsessv40529, essv37952, essv53207, essv33853, essv47083, essv32740, essv65509, essv73492, essv42062
SamplesNA18502, NA18861, NA18508, NA12156, NA12878, NA19257, NA19147, NA19240, NA18505
Known Genes
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)esv18994
Frequency
Sample Size40
Observed Gain7
Observed Loss2
Observed Complex0
Frequencyn/a


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