A curated catalogue of human genomic structural variation




Variant Details

Variant: essv77769



Internal ID10975894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:139521304..139525614hg38UCSC Ensembl
Innerchr7:139206050..139210360hg19UCSC Ensembl
Innerchr7:138856590..138860900hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg384311
hg194311
hg184311
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv17558
Supporting Variants
SamplesNA06985
Known GenesCLEC2L
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)essv77769
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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