A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982848



Internal ID12628954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:83893495..84950737hg38UCSC Ensembl
Innerchr8:84805730..85862972hg19UCSC Ensembl
Innerchr8:84968285..86025527hg18UCSC Ensembl
Innerchr8:84968285..86025527hg17UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg381057243
hg191057243
hg181057243
hg171057243
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)essv6982848
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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