A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008833



Internal ID7073696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:47773001..47777770hg38UCSC Ensembl
Outerchr18:45299372..45304141hg19UCSC Ensembl
Outerchr18:43553370..43558139hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg384770
hg194770
hg184770
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564101
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008833
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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