A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1011202



Internal ID7059964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:130832068..130841499hg38UCSC Ensembl
Outerchr8:131844314..131853745hg19UCSC Ensembl
Outerchr8:131913496..131922927hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg389432
hg199432
hg189432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564529
SamplesHuRef
Known GenesADCY8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1011202
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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