A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647094



Internal ID7033836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42864477..42867900hg38UCSC Ensembl
Innerchr21:42864507..42867871hg38UCSC Ensembl
Outerchr21:42864448..42867930hg38UCSC Ensembl
chr21:44284587..44288010hg19UCSC Ensembl
Innerchr21:44284617..44287981hg19UCSC Ensembl
Outerchr21:44284558..44288040hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383424
hg193424
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16325128
SamplesHG04022
Known GenesWDR4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647094
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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