A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24159



Internal ID11041392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30558800..30801543hg38UCSC Ensembl
Innerchr15:30851003..31093746hg19UCSC Ensembl
Innerchr15:28638295..28881038hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38242744
hg19242744
hg18242744
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv13237, esv15159, esv15843, esv12514, esv16212, esv13453
SamplesNA18523, NA12287, NA12414, NA12239, NA19129, NA06985
Known GenesARHGAP11B, GOLGA8H, LOC100288637, ULK4P1, ULK4P2
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)esv24159
Frequency
Sample Size40
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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