A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990229



Internal ID12981847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3829877..6093323hg38UCSC Ensembl
Innerchr8:3687399..5950845hg19UCSC Ensembl
Innerchr8:3674807..5938253hg18UCSC Ensembl
Innerchr8:3674807..5938253hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382263447
hg192263447
hg182263447
hg172263447
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34221
Supporting Variants
SamplesNA19007
Known GenesCSMD1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990229
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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