A curated catalogue of human genomic structural variation




Variant Details

Variant: esv987550



Internal ID6723524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:36187242..36197033hg38UCSC Ensembl
Outerchr18:33767205..33776996hg19UCSC Ensembl
Outerchr18:32021203..32030994hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg389792
hg199792
hg189792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563574
SamplesHuRef
Known GenesMOCOS
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv987550
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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