A curated catalogue of human genomic structural variation




Variant Details

Variant: essv53755



Internal ID11001969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119988338..120084527hg38UCSC Ensembl
Innerchr1:120530961..120627128hg19UCSC Ensembl
Innerchr1:120332484..120428651hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3896190
hg1996168
hg1896168
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv11320
Supporting Variants
SamplesNA18508
Known GenesNOTCH2
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)essv53755
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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