A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422301



Internal ID7906398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:23783436..24038367hg38UCSC Ensembl
Innerchr21:25155753..25410682hg19UCSC Ensembl
Innerchr21:24077624..24332553hg18UCSC Ensembl
Innerchr21:24077624..24332553hg17UCSC Ensembl
Cytoband21q21.2
Allele length
AssemblyAllele length
hg38254932
hg19254930
hg18254930
hg17254930
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161533
SamplesND04104
Known Genes
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422301
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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