A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646508



Internal ID7033252
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16276782, essv16276781
SamplesHG01531, HG03469
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646508
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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