A curated catalogue of human genomic structural variation




Variant Details

Variant: essv37068



Internal ID10979451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:98892725..98895618hg38UCSC Ensembl
Innerchr4:99813876..99816769hg19UCSC Ensembl
Innerchr4:100032899..100035792hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg382894
hg192894
hg182894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv20331
Supporting Variants
SamplesNA11894
Known GenesEIF4E
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)essv37068
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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