A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10598



Internal ID11027832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45573588..45586599hg38UCSC Ensembl
Innerchr17:43650954..43663965hg19UCSC Ensembl
Innerchr17:41006737..41019748hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3813012
hg1913012
hg1813012
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26189
Supporting Variantsessv45527, essv80978, essv71539, essv83957, essv81836, essv60357, essv55355, essv68551, essv75712, essv72466, essv58528, essv65978
SamplesNA11995, NA12414, NA19190, NA18916, NA19114, NA19099, NA19225, NA18523, NA18858, NA19108, NA19240, NA19129
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)esv10598
Frequency
Sample Size40
Observed Gain4
Observed Loss8
Observed Complex0
Frequencyn/a


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