A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161533



Internal ID7906247
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 StatusS
Merged Variantsesv2422301
Supporting Variants
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)essv5161533
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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