A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22027



Internal ID11039260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82427709..82550890hg38UCSC Ensembl
Innerchr15:83096440..83219640hg19UCSC Ensembl
Innerchr15:80893495..81016695hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38123182
hg19123201
hg18123201
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv10828, esv15860, esv16292, esv16583, esv16851, esv14041, esv12845, esv9735, esv10126
SamplesNA11995, NA18861, NA11931, NA12004, NA19190, NA18916, NA12044, NA12828, NA12489, NA12878, NA18907, NA11894, NA12239, NA19257, NA19225, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA07037, NA12749, NA19129, NA12006, NA12776
Known GenesCPEB1, CSPG4P8, GOLGA6L20, GOLGA6L9, LOC727751, LOC80154, RPS17, RPS17L
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)esv22027
Frequency
Sample Size40
Observed Gain21
Observed Loss7
Observed Complex0
Frequencyn/a


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