A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16313345



Internal ID3755959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32028272..32035332hg38UCSC Ensembl
Innerchr21:32028280..32035325hg38UCSC Ensembl
Outerchr21:32028265..32035340hg38UCSC Ensembl
chr21:33400585..33407645hg19UCSC Ensembl
Innerchr21:33400593..33407638hg19UCSC Ensembl
Outerchr21:33400578..33407653hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg387061
hg197061
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646875
Supporting Variants
SamplesHG03385
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16313345
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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