A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18312



Internal ID11035546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:84183246..84205779hg38UCSC Ensembl
Innerchr15:84851998..84874531hg19UCSC Ensembl
Innerchr15:82643002..82665535hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3822534
hg1922534
hg1822534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29092
Supporting Variantsessv75329, essv63742, essv76897
SamplesNA12004, NA07045, NA18511
Known GenesLOC388152, LOC440300, LOC642423
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)esv18312
Frequency
Sample Size40
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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