A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3573164



Internal ID7044546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130838503..130840491hg38UCSC Ensembl
chr8:131850749..131852737hg19UCSC Ensembl
chr8:131919931..131921919hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381989
hg191989
hg181989
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000595
Supporting Variants
SamplesHuRef
Known GenesADCY8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3573164
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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