A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16514



Internal ID11380433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143540862..143754942hg38UCSC Ensembl
Innerchr1:149035524..149249591hg19UCSC Ensembl
Innerchr1:147302148..147516215hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38214081
hg19214068
hg18214068
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21838
Supporting Variantsessv47595, essv55468, essv62686, essv78072
SamplesNA18861, NA15510, NA19099, NA06985
Known GenesLOC101929780, NBPF23
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)esv16514
Frequency
Sample Size40
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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