A curated catalogue of human genomic structural variation




Variant Details

Variant: essv58539



Internal ID11362786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25362482..25421108hg38UCSC Ensembl
Innerchr1:25688973..25747599hg19UCSC Ensembl
Innerchr1:25561560..25620186hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3858627
hg1958627
hg1858627
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv16269
Supporting Variants
SamplesNA19108
Known GenesRHCE
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)essv58539
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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