A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646475



Internal ID7033219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:17281046..17281622hg38UCSC Ensembl
Innerchr21:17281060..17281608hg38UCSC Ensembl
Outerchr21:17281032..17281636hg38UCSC Ensembl
chr21:18653365..18653941hg19UCSC Ensembl
Innerchr21:18653379..18653927hg19UCSC Ensembl
Outerchr21:18653351..18653955hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38577
hg19577
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16272924
SamplesHG03127
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646475
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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