A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422379



Internal ID8253162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:66512321..66604602hg38UCSC Ensembl
Innerchr6:67222214..67314495hg19UCSC Ensembl
Innerchr6:67278935..67371216hg18UCSC Ensembl
Innerchr6:67278935..67371216hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3892282
hg1992282
hg1892282
hg1792282
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161409
SamplesND02296
Known Genes
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422379
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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