A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15551



Internal ID11379470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129936365..129945455hg38UCSC Ensembl
Innerchr2:130693938..130703028hg19UCSC Ensembl
Innerchr2:130410408..130419498hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg389091
hg199091
hg189091
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29254
Supporting Variantsessv44742, essv81087
SamplesNA12489, NA19114
Known Genes
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)esv15551
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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