A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000595



Internal ID7065725
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3573164
SamplesHuRef
Known GenesADCY8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000595
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer