A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26656



Internal ID11390575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:25955913..25961977hg38UCSC Ensembl
Innerchr12:26108846..26114910hg19UCSC Ensembl
Innerchr12:26000113..26006177hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg386065
hg196065
hg186065
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv17456, esv10767
SamplesNA07045, NA12776
Known GenesRASSF8, RASSF8-AS1
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)esv26656
Frequency
Sample Size40
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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