A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17185



Internal ID11381104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:122582441..122593091hg38UCSC Ensembl
Innerchr10:124341957..124352607hg19UCSC Ensembl
Innerchr10:124331947..124342597hg18UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3810651
hg1910651
hg1810651
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23096
Supporting Variantsessv62893, essv72323, essv62074, essv52644, essv48317, essv70111, essv49720, essv44813, essv60241, essv69365
SamplesNA18916, NA12044, NA12489, NA12239, NA15510, NA19225, NA18523, NA18517, NA07037, NA12006
Known GenesDMBT1
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)esv17185
Frequency
Sample Size40
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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