A curated catalogue of human genomic structural variation




Variant Details

Variant: essv72073



Internal ID11369594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:74067515..74090627hg38UCSC Ensembl
Innerchr15:74359856..74382968hg19UCSC Ensembl
Innerchr15:72146909..72170021hg18UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg3823113
hg1923113
hg1823113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv16734
Supporting Variants
SamplesNA19225
Known GenesGOLGA6A
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)essv72073
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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