A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978726



Internal ID12632342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39533015..39605546hg38UCSC Ensembl
Innerchr21:40904942..40977473hg19UCSC Ensembl
Innerchr21:39826812..39899343hg18UCSC Ensembl
Innerchr21:39826812..39899343hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3872532
hg1972532
hg1872532
hg1772532
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34779
Supporting Variants
SamplesNA12156
Known GenesC21orf88
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978726
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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