A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17894



Internal ID11381813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50109929..50146264hg38UCSC Ensembl
Innerchr5:49405763..49442098hg19UCSC Ensembl
Innerchr5:49441520..49477855hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3836336
hg1936336
hg1836336
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28135
Supporting Variantsessv81025, essv71836, essv74155, essv79486, essv43709, essv37082, essv34544, essv51540, essv55834, essv74806, essv38731, essv41177, essv58092, essv44849, essv81985, essv55677, essv39476
SamplesNA18502, NA11995, NA11931, NA12004, NA12287, NA12156, NA12489, NA19114, NA11894, NA19099, NA19257, NA19225, NA18909, NA19108, NA12749, NA18505, NA12776
Known Genes
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)esv17894
Frequency
Sample Size40
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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