A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978725



Internal ID12632327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39533003..39575703hg38UCSC Ensembl
Innerchr21:40904930..40947630hg19UCSC Ensembl
Innerchr21:39826800..39869500hg18UCSC Ensembl
Innerchr21:39826800..39869500hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3842701
hg1942701
hg1842701
hg1742701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34779
Supporting Variants
SamplesNA12156
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978725
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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