A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29180



Internal ID11046413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69419809..69434109hg38UCSC Ensembl
Innerchr9:72034725..72049025hg19UCSC Ensembl
Innerchr9:71224545..71238845hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3814301
hg1914301
hg1814301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15039
SamplesNA18523, NA18508, NA19225
Known GenesAPBA1
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)esv29180
Frequency
Sample Size40
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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