A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21178



Internal ID11038412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:17827627..17832292hg38UCSC Ensembl
Innerchr10:17869626..17874291hg19UCSC Ensembl
Innerchr10:17909632..17914297hg18UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg384666
hg194666
hg184666
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29303
Supporting Variantsessv53066, essv46514, essv50488, essv60557
SamplesNA18508, NA18523, NA18517, NA19129
Known GenesMRC1
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)esv21178
Frequency
Sample Size40
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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