A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998622



Internal ID6734554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:32713318..32724616hg38UCSC Ensembl
Outerchr18:30293281..30304579hg19UCSC Ensembl
Outerchr18:28547279..28558577hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3811299
hg1911299
hg1811299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565443
SamplesHuRef
Known GenesKLHL14
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998622
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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