A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12553



Internal ID11376472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:58870123..58872660hg38UCSC Ensembl
Innerchr18:56537355..56539892hg19UCSC Ensembl
Innerchr18:54688335..54690872hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg382538
hg192538
hg182538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28415
Supporting Variantsessv71901
SamplesNA19225
Known GenesZNF532
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)esv12553
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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