A curated catalogue of human genomic structural variation

Variant Details

Variant: esv12973

Internal ID11030207
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:132190802..132192252hg38UCSC Ensembl
Innerchr10:134004306..134005756hg19UCSC Ensembl
Innerchr10:133854296..133855746hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21677
Supporting Variantsessv50478, essv77613, essv69865, essv62714, essv74385, essv66357, essv32580, essv43010, essv80844
SamplesNA18517, NA15510, NA12044, NA19147, NA12004, NA11995, NA06985, NA18909, NA19240
Known GenesDPYSL4
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
Pubmed ID19812545
Accession Number(s)esv12973
Sample Size40
Observed Gain0
Observed Loss9
Observed Complex0

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