A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15181



Internal ID11032415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16849227..16879637hg38UCSC Ensembl
Innerchr1:17175722..17206132hg19UCSC Ensembl
Innerchr1:17048309..17078719hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3830411
hg1930411
hg1830411
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26111
Supporting Variantsessv41686, essv64850, essv68936, essv35020, essv40974
SamplesNA18502, NA12878, NA07045, NA18858, NA18505
Known GenesMIR3675
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)esv15181
Frequency
Sample Size40
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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