A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978382



Internal ID12981881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3829880..6093320hg38UCSC Ensembl
Innerchr8:3687402..5950842hg19UCSC Ensembl
Innerchr8:3674810..5938250hg18UCSC Ensembl
Innerchr8:3674810..5938250hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382263441
hg192263441
hg182263441
hg172263441
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35028
Supporting Variants
SamplesNA19012
Known GenesCSMD1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978382
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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