A curated catalogue of human genomic structural variation




Variant Details

Variant: essv53654



Internal ID11002070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:62624986..62626383hg38UCSC Ensembl
Innerchr3:62610661..62612058hg19UCSC Ensembl
Innerchr3:62585701..62587098hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg381398
hg191398
hg181398
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv11046
Supporting Variants
SamplesNA18508
Known GenesCADPS
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)essv53654
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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