A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980229



Internal ID12981474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:49532897..49626810hg38UCSC Ensembl
Innerchr8:50445456..50539369hg19UCSC Ensembl
Innerchr8:50608009..50701922hg18UCSC Ensembl
Innerchr8:50608009..50701922hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3893914
hg1993914
hg1893914
hg1793914
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34838
Supporting Variants
SamplesNA18970
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980229
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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