A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25924



Internal ID11043157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165158182..165160316hg38UCSC Ensembl
Innerchr2:166014692..166016826hg19UCSC Ensembl
Innerchr2:165722938..165725072hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382135
hg192135
hg182135
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv17246, esv21394
SamplesNA18502, NA18861, NA19190, NA18916, NA15510, NA19257, NA18909, NA19108, NA19147, NA12749, NA19129, NA18511
Known GenesSCN3A
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)esv25924
Frequency
Sample Size40
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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