A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12552



Internal ID11029786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12835342..12874217hg38UCSC Ensembl
Innerchr1:12895193..12934038hg19UCSC Ensembl
Innerchr1:12817780..12856625hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3838876
hg1938846
hg1838846
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28644
Supporting Variantsessv39573, essv66834, essv55516, essv65206, essv77818, essv57744, essv41309, essv73395
SamplesNA12287, NA12156, NA12828, NA11993, NA19099, NA06985, NA19240, NA18505
Known GenesHNRNPCL1, LOC649330, PRAMEF2
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)esv12552
Frequency
Sample Size40
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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