A curated catalogue of human genomic structural variation




Variant Details

Variant: essv35893



Internal ID11009747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130045029..130204193hg38UCSC Ensembl
Innerchr3:129763872..129923036hg19UCSC Ensembl
Innerchr3:131246562..131405726hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38159165
hg19159165
hg18159165
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv18933
Supporting Variants
SamplesNA18907
Known GenesALG1L2, FAM86HP
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)essv35893
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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