A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982834



Internal ID12975635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:32048357..32091533hg38UCSC Ensembl
Innerchr21:33420670..33463846hg19UCSC Ensembl
Innerchr21:32342541..32385717hg18UCSC Ensembl
Innerchr21:32342541..32385717hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3843177
hg1943177
hg1843177
hg1743177
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751926
Supporting Variants
SamplesBEC_603
Known GenesLINC00159
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982834
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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