A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586125



Internal ID7057507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45632947..45634637hg38UCSC Ensembl
Innerchr21:47052861..47054551hg19UCSC Ensembl
Innerchr21:45877289..45878979hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381691
hg191691
hg181691
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv994264
Supporting Variants
SamplesHuRef
Known Genes
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586125
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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