A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12789



Internal ID11030023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:112986736..112989941hg38UCSC Ensembl
Innerchr1:113529358..113532563hg19UCSC Ensembl
Innerchr1:113330881..113334086hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg383206
hg193206
hg183206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24626
Supporting Variantsessv42908, essv47197, essv71684, essv35694, essv76906, essv55241
SamplesNA18861, NA18907, NA19099, NA19225, NA18909, NA18511
Known Genes
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)esv12789
Frequency
Sample Size40
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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