A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422407



Internal ID8253190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31273177..31355157hg38UCSC Ensembl
Innerchr6:31240954..31322934hg19UCSC Ensembl
Innerchr6:31348933..31430913hg18UCSC Ensembl
Innerchr6:31348933..31430913hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3881981
hg1981981
hg1881981
hg1781981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161445
SamplesND00528
Known GenesHLA-B
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422407
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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