A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21531



Internal ID11038765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82391087..82545201hg38UCSC Ensembl
Innerchr15:82683298..82829609hg19UCSC Ensembl
Innerchr15:80470353..80616664hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38154115
hg19146312
hg18146312
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18177, esv16001, esv13479, esv13473, esv16849, esv17731, esv18754, esv18531
SamplesNA12489, NA18861, NA18523, NA19114, NA18511, NA12828, NA18517, NA12776, NA19257, NA19108, NA18505, NA12044, NA12004, NA11894, NA18916, NA19190, NA12239, NA19129, NA18858, NA18909, NA12749, NA19099, NA12878, NA19225
Known GenesCSPG4P8, GOLGA6L20, GOLGA6L9, LOC440300, LOC80154, RPS17, RPS17L, UBE2Q2P2, UBE2Q2P3
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)esv21531
Frequency
Sample Size40
Observed Gain19
Observed Loss7
Observed Complex0
Frequencyn/a


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