A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990202



Internal ID12981517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3829877..6085163hg38UCSC Ensembl
Innerchr8:3687399..5942685hg19UCSC Ensembl
Innerchr8:3674807..5930093hg18UCSC Ensembl
Innerchr8:3674807..5930093hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382255287
hg192255287
hg182255287
hg172255287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34327
Supporting Variants
SamplesNA18972
Known GenesCSMD1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990202
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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