A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18707



Internal ID11382626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:156759342..156760292hg38UCSC Ensembl
Innerchr4:157680494..157681444hg19UCSC Ensembl
Innerchr4:157899944..157900894hg18UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38951
hg19951
hg18951
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25693
Supporting Variantsessv32208, essv53924, essv57483, essv81645, essv70329, essv72202
SamplesNA18508, NA18916, NA11993, NA19114, NA19225, 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)esv18707
Frequency
Sample Size40
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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