A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3270163



Internal ID11289829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:130838503..130840492hg38UCSC Ensembl
Outerchr8:131850749..131852738hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381990
hg191990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7539730
SamplesHuRef
Known GenesADCY8
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3270163
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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