A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29340



Internal ID11046573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:88907171..89010602hg38UCSC Ensembl
Innerchr9:91522086..91625517hg19UCSC Ensembl
Innerchr9:90711906..90815337hg18UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg38103432
hg19103432
hg18103432
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv21118, esv10573, esv19215
SamplesNA18508, NA12004, NA12156, NA07045, NA19225, NA18523, NA18909, NA12749
Known GenesC9orf47, S1PR3, SHC3
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)esv29340
Frequency
Sample Size40
Observed Gain3
Observed Loss5
Observed Complex0
Frequencyn/a


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