A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978383



Internal ID12981882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3830182..6085163hg38UCSC Ensembl
Innerchr8:3687704..5942685hg19UCSC Ensembl
Innerchr8:3675112..5930093hg18UCSC Ensembl
Innerchr8:3675112..5930093hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382254982
hg192254982
hg182254982
hg172254982
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)essv6978383
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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