A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009781



Internal ID7074075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:17287807..17294634hg38UCSC Ensembl
Outerchr19:17398616..17405443hg19UCSC Ensembl
Outerchr19:17259616..17266443hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg386828
hg196828
hg186828
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563689
SamplesHuRef
Known GenesABHD8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009781
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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