A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12735



Internal ID11029969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42483255..42558875hg38UCSC Ensembl
Innerchr22:42879261..42954881hg19UCSC Ensembl
Innerchr22:41209205..41284825hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3875621
hg1975621
hg1875621
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28197
Supporting Variantsessv59072, essv34387, essv33414, essv69340, essv41882, essv50434, essv82096, essv75419, essv55056, essv78579
SamplesNA18502, NA12414, NA12044, NA19114, NA19099, NA06985, NA19108, NA19147, NA18517, NA18505
Known GenesRRP7A, SERHL, SERHL2
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)esv12735
Frequency
Sample Size40
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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