A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986284



Internal ID12628966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:83942926..84989622hg38UCSC Ensembl
Innerchr8:84855161..85901857hg19UCSC Ensembl
Innerchr8:85017716..86064692hg18UCSC Ensembl
Innerchr8:85017716..86064692hg17UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg381046697
hg191046697
hg181046977
hg171046977
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986284
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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