A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13870



Internal ID11031104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:36018925..36019499hg38UCSC Ensembl
Innerchr4:36020547..36021121hg19UCSC Ensembl
Innerchr4:35696942..35697516hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38575
hg19575
hg18575
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26150
Supporting Variantsessv38713, essv42668, essv36290, essv70459
SamplesNA18916, NA18907, NA19257, NA18909
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)esv13870
Frequency
Sample Size40
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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