A curated catalogue of human genomic structural variation




Variant Details

Variant: esv9804



Internal ID11047243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32658279..32659399hg38UCSC Ensembl
Innerchr6:32626056..32627176hg19UCSC Ensembl
Innerchr6:32734034..32735154hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381121
hg191121
hg181121
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21985
Supporting Variantsessv70664, essv34451, essv37733, essv48097, essv61471, essv33569
SamplesNA18502, NA18861, NA18916, NA12239, NA19257, NA19147
Known Genes
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)esv9804
Frequency
Sample Size40
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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