A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982849



Internal ID12628953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:83895280..84984685hg38UCSC Ensembl
Innerchr8:84807515..85896920hg19UCSC Ensembl
Innerchr8:84970070..86059755hg18UCSC Ensembl
Innerchr8:84970070..86059755hg17UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg381089406
hg191089406
hg181089686
hg171089686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752268
Supporting Variants
SamplesBEC_604
Known GenesRALYL
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982849
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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