A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13026



Internal ID11376945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:17402813..17410779hg38UCSC Ensembl
Innerchr2:17584080..17592046hg19UCSC Ensembl
Innerchr2:17447561..17455527hg18UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg387967
hg197967
hg187967
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28419
Supporting Variantsessv67622, essv60061, essv42358, essv84017, essv36294, essv72829, essv47535, essv64089, essv54823, essv34726
SamplesNA18502, NA18861, NA19190, NA18907, NA07045, NA19099, NA19225, NA18523, NA18858, NA18505
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)esv13026
Frequency
Sample Size40
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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