A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13984



Internal ID11377903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:3144578..3147382hg38UCSC Ensembl
Innerchr6:3144812..3147616hg19UCSC Ensembl
Innerchr6:3089811..3092615hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg382805
hg192805
hg182805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23049
Supporting Variantsessv35520, essv77034, essv50654, essv52356, essv58778, essv34301, essv72921, essv55870, essv64395, essv41449, essv39624, essv48284, essv43756, essv74225, essv65641, essv44739, essv36611, essv82397, essv46733
SamplesNA18502, NA18861, NA11931, NA12287, NA12156, NA12489, NA18907, NA07045, NA19114, NA11894, NA19225, NA18909, NA19108, NA19240, NA07037, NA18505, NA12006, NA18511, NA12776
Known GenesBPHL
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)esv13984
Frequency
Sample Size40
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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