A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12700



Internal ID11376619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:37266007..37303951hg38UCSC Ensembl
Innerchr19:37756909..37794853hg19UCSC Ensembl
Innerchr19:42448749..42486693hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3837945
hg1937945
hg1837945
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28051
Supporting Variantsessv72511, essv81160, essv50543, essv42516, essv80519, essv51254, essv38036, essv70081, essv78635, essv74885, essv63021, essv52808, essv58851, essv45284, essv77434, essv34862, essv69028, essv33151, essv83024, essv60718, essv37418
SamplesNA18502, NA11995, NA18508, NA11931, NA12004, NA19190, NA18916, NA12044, NA19114, NA11894, NA15510, NA19257, NA19225, NA18523, NA19108, NA19147, NA18517, NA12749, NA18505, NA19129, NA18511
Known GenesLOC284412
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)esv12700
Frequency
Sample Size40
Observed Gain16
Observed Loss5
Observed Complex0
Frequencyn/a


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