A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986572



Internal ID12981637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:49532888..49626788hg38UCSC Ensembl
Innerchr8:50445447..50539347hg19UCSC Ensembl
Innerchr8:50608000..50701900hg18UCSC Ensembl
Innerchr8:50608000..50701900hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3893901
hg1993901
hg1893901
hg1793901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34964
Supporting Variants
SamplesNA18990
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986572
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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