A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12075



Internal ID11029309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:126127279..126132054hg38UCSC Ensembl
Innerchr3:125846122..125850897hg19UCSC Ensembl
Innerchr3:127328812..127333587hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg384776
hg194776
hg184776
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23981
Supporting Variantsessv44130
SamplesNA12489
Known GenesALDH1L1
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)esv12075
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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