A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14639



Internal ID11031873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8161178..8226486hg38UCSC Ensembl
Innerchr12:8313774..8379082hg19UCSC Ensembl
Innerchr12:8205041..8270349hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3865309
hg1965309
hg1865309
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29886
Supporting Variantsessv42678, essv71872, essv61831, essv32663
SamplesNA12239, NA19225, NA18909, NA19147
Known GenesFAM66C, FAM90A1, ZNF705A
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)esv14639
Frequency
Sample Size40
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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