A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422319



Internal ID8253102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2228200..2708980hg38UCSC Ensembl
Innerchr8:2175868..2566515hg19UCSC Ensembl
Innerchr8:2163275..2553922hg18UCSC Ensembl
Innerchr8:2163275..2553922hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38480781
hg19390648
hg18390648
hg17390648
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161451
SamplesND05052
Known Genes
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422319
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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