A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16276782



Internal ID3830690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:19035542..19037381hg38UCSC Ensembl
Innerchr21:19035578..19037346hg38UCSC Ensembl
Outerchr21:19035507..19037417hg38UCSC Ensembl
chr21:20407861..20409700hg19UCSC Ensembl
Innerchr21:20407897..20409665hg19UCSC Ensembl
Outerchr21:20407826..20409736hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg381840
hg191840
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646508
Supporting Variants
SamplesHG03469
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16276782
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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