A curated catalogue of human genomic structural variation




Variant Details

Variant: essv78903



Internal ID10992942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70234170..70485018hg38UCSC Ensembl
Innerchr5:69529997..69780845hg19UCSC Ensembl
Innerchr5:69565753..69816601hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38250849
hg19250849
hg18250849
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv14795
Supporting Variants
SamplesNA12749
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, SMA4, SMA5
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)essv78903
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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