A curated catalogue of human genomic structural variation




Variant Details

Variant: essv80069



Internal ID11329419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:130877055..130877600hg38UCSC Ensembl
Innerchr9:133752442..133752987hg19UCSC Ensembl
Innerchr9:132742263..132742808hg18UCSC Ensembl
Cytoband9q34.12
Allele length
AssemblyAllele length
hg38546
hg19546
hg18546
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv20689
Supporting Variants
SamplesNA11995
Known GenesABL1
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)essv80069
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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