A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565476



Internal ID7036858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:48757681..48769971hg38UCSC Ensembl
Outerchr18:46284052..46296342hg19UCSC Ensembl
Outerchr18:44538050..44550340hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3812291
hg1912291
hg1812291
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1006969
Supporting Variants
SamplesHuRef
Known GenesCTIF
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565476
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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