A curated catalogue of human genomic structural variation




Variant Details

Variant: essv54514



Internal ID11013818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25258648..25338322hg38UCSC Ensembl
Innerchr1:25585139..25664813hg19UCSC Ensembl
Innerchr1:25457726..25537400hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3879675
hg1979675
hg1879675
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv17091
Supporting Variants
SamplesNA19099
Known GenesRHD, TMEM50A
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)essv54514
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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