A curated catalogue of human genomic structural variation




Variant Details

Variant: essv36186



Internal ID11009448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:166299160..166300627hg38UCSC Ensembl
Innerchr2:167155670..167157137hg19UCSC Ensembl
Innerchr2:166863916..166865383hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381468
hg191468
hg181468
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv15296
Supporting Variants
SamplesNA18907
Known GenesSCN9A
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)essv36186
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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