A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16319857



Internal ID2197047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36958222..36973970hg38UCSC Ensembl
Innerchr21:36958372..36973820hg38UCSC Ensembl
Outerchr21:36958072..36974120hg38UCSC Ensembl
chr21:38330522..38346270hg19UCSC Ensembl
Innerchr21:38330672..38346120hg19UCSC Ensembl
Outerchr21:38330372..38346420hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3815749
hg1915749
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646982
Supporting Variants
SamplesHG01980
Known GenesHLCS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16319857
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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