A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21965



Internal ID11039198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:32608107..32632883hg38UCSC Ensembl
Innerchr15:32900308..32925084hg19UCSC Ensembl
Innerchr15:30687600..30712376hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg3824777
hg1924777
hg1824777
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv17633
SamplesNA12287, NA12414
Known GenesARHGAP11A
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)esv21965
Frequency
Sample Size40
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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