A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16347107



Internal ID6946074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46337705..46341012hg38UCSC Ensembl
Innerchr21:46337734..46340983hg38UCSC Ensembl
Outerchr21:46337676..46341041hg38UCSC Ensembl
chr21:47757619..47760926hg19UCSC Ensembl
Innerchr21:47757648..47760897hg19UCSC Ensembl
Outerchr21:47757590..47760955hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383308
hg193308
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647166
Supporting Variants
SamplesNA21128
Known GenesPCNT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16347107
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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