A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18870



Internal ID11036104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42628146..42631168hg38UCSC Ensembl
Innerchr5:42628248..42631270hg19UCSC Ensembl
Innerchr5:42664005..42667027hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg383023
hg193023
hg183023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29345
Supporting Variantsessv69487, essv61537, essv43393, essv66185, essv54846, essv49810, essv71926, essv52781, essv37655, essv70701, essv79499, essv81339, essv33129, essv74779, essv60512, essv59495, essv44396, essv35964, essv83954, essv64030
SamplesNA18508, NA12004, NA19190, NA18916, NA12044, NA12489, NA18907, NA07045, NA19114, NA12239, NA19099, NA19257, NA19225, NA18523, NA18909, NA19108, NA19147, NA18517, NA19240, NA12749
Known GenesGHR
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)esv18870
Frequency
Sample Size40
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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