A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21739



Internal ID11038972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:63715122..64278129hg38UCSC Ensembl
Innerchr18:61382356..61945364hg19UCSC Ensembl
Innerchr18:59533336..60096344hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38563008
hg19563009
hg18563009
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18241, esv16044
SamplesNA11995, NA19114
Known GenesHMSD, LINC00305, LOC284294, LOC400654, SERPINB10, SERPINB11, SERPINB2, SERPINB7, SERPINB8
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)esv21739
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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