A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25249



Internal ID11042482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:119136490..119281404hg38UCSC Ensembl
Innerchr3:118855337..119000251hg19UCSC Ensembl
Innerchr3:120338027..120482941hg18UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg38144915
hg19144915
hg18144915
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18354
SamplesNA12489
Known GenesB4GALT4, C3orf30, IGSF11, UPK1B
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)esv25249
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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