A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647150



Internal ID7033891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45669160..45728040hg38UCSC Ensembl
Innerchr21:45669160..45728040hg38UCSC Ensembl
Outerchr21:45668660..45728540hg38UCSC Ensembl
chr21:47089074..47147954hg19UCSC Ensembl
Innerchr21:47089074..47147954hg19UCSC Ensembl
Outerchr21:47088574..47148454hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3858881
hg1958881
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16341182
SamplesHG00246
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647150
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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