A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18984



Internal ID11036218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82974938..82976983hg38UCSC Ensembl
Innerchr17:80932814..80934859hg19UCSC Ensembl
Innerchr17:78526103..78528148hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382046
hg192046
hg182046
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21913
Supporting Variantsessv65903, essv47639, essv40307, essv45208, essv52396, essv63115, essv53075, essv79183, essv60737, essv33488, essv38019, essv57137, essv76164, essv69769, essv74039
SamplesNA18861, NA18508, NA12414, NA12156, NA12044, NA11993, NA12878, NA15510, NA19257, NA18523, NA19147, NA19240, NA12749, NA19129, NA12006
Known GenesB3GNTL1
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)esv18984
Frequency
Sample Size40
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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