A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18078



Internal ID11035312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16621299..16683033hg38UCSC Ensembl
Innerchr1:16947794..17009528hg19UCSC Ensembl
Innerchr1:16820381..16882115hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3861735
hg1961735
hg1861735
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29642
Supporting Variantsessv50561, essv73700, essv64485, essv78641, essv45341, essv76466
SamplesNA12414, NA12156, NA07045, NA18517, NA12749, NA19129
Known GenesCROCCP2, LOC729574, MIR3675, MST1P2
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)esv18078
Frequency
Sample Size40
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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