A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20258



Internal ID11384177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87368551..87396002hg38UCSC Ensembl
Innerchr2:87595674..87623125hg19UCSC Ensembl
Innerchr2:87449185..87476636hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3827452
hg1927452
hg1827452
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26476
Supporting Variantsessv48023, essv66224
SamplesNA18861, NA19240
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)esv20258
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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