A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986875



Internal ID12633536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46598630..46650018hg38UCSC Ensembl
Innerchr21:48018543..48069930hg19UCSC Ensembl
Innerchr21:46842971..46894358hg18UCSC Ensembl
Innerchr21:46842971..46894358hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3851389
hg1951388
hg1851388
hg1751388
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34393
Supporting Variants
SamplesNA18561
Known GenesPRMT2, S100B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986875
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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