A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28550



Internal ID11045783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148233313..148234173hg38UCSC Ensembl
Innerchr1:146163758..146164618hg19UCSC Ensembl
Innerchr1:144875115..144875975hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38861
hg19861
hg18861
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv9978
SamplesNA18511, NA18916
Known GenesLOC100288142, LOC101929780, NBPF10
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)esv28550
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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