A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982364



Internal ID12973612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:77797847..78060127hg38UCSC Ensembl
Innerchr8:78710082..78972362hg19UCSC Ensembl
Innerchr8:78872637..79134917hg18UCSC Ensembl
Innerchr8:78872637..79134917hg17UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg38262281
hg19262281
hg18262281
hg17262281
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752267
Supporting Variants
SamplesBEC_427
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982364
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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