A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1235416



Internal ID12398539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130854819..130854905hg38UCSC Ensembl
chr8:131867065..131867151hg19UCSC Ensembl
chr8:131936247..131936333hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4054493
SamplesHuRef
Known GenesADCY8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1235416
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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