A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988097



Internal ID12979583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136708575..136850575hg38UCSC Ensembl
Innerchr8:137720818..137862818hg19UCSC Ensembl
Innerchr8:137790000..137932000hg18UCSC Ensembl
Innerchr8:137790000..137932000hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38142001
hg19142001
hg18142001
hg17142001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34324
Supporting Variants
SamplesNA12874
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988097
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