A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647135



Internal ID6687190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44764118..44826199hg38UCSC Ensembl
Innerchr21:44764118..44826199hg38UCSC Ensembl
Outerchr21:44763618..44826699hg38UCSC Ensembl
chr21:46184033..46246114hg19UCSC Ensembl
Innerchr21:46184033..46246114hg19UCSC Ensembl
Outerchr21:46183533..46246614hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3862082
hg1962082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16334179
SamplesHG04156
Known GenesSUMO3, UBE2G2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647135
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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