A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26567



Internal ID11043800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104512800..104513531hg38UCSC Ensembl
Innerchr12:104906578..104907309hg19UCSC Ensembl
Innerchr12:103430708..103431439hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38732
hg19732
hg18732
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv11507
SamplesNA18517, NA18858
Known GenesCHST11
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)esv26567
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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