A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1006969



Internal ID7072062
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565476
SamplesHuRef
Known GenesCTIF
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1006969
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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