A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28250



Internal ID11392169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:470703..521323hg38UCSC Ensembl
Innerchr19:470703..521323hg19UCSC Ensembl
Innerchr19:421703..472323hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3850621
hg1950621
hg1850621
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12873, esv18199, esv21188, esv18865, esv10417, esv13712
SamplesNA18508, NA12414, NA12156, NA12044, NA19225, NA18858, NA19240, NA19129
Known GenesMADCAM1, ODF3L2, TPGS1
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)esv28250
Frequency
Sample Size40
Observed Gain6
Observed Loss2
Observed Complex0
Frequencyn/a


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