A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27178



Internal ID11391097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:45026721..45031576hg38UCSC Ensembl
Innerchr15:45318919..45323774hg19UCSC Ensembl
Innerchr15:43106211..43111066hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg384856
hg194856
hg184856
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv20125
SamplesNA18861, NA18508, NA12414, NA19190, NA18916, NA18907, NA19114, NA11894, NA19099, NA19257, NA19225, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA18505, NA19129
Known GenesSORD
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)esv27178
Frequency
Sample Size40
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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