A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16192719



Internal ID2176825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43658261..43666033hg38UCSC Ensembl
Innerchr20:43658761..43665533hg38UCSC Ensembl
Outerchr20:43657261..43667033hg38UCSC Ensembl
chr20:42286901..42294673hg19UCSC Ensembl
Innerchr20:42287401..42294173hg19UCSC Ensembl
Outerchr20:42285901..42295673hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg387773
hg197773
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645887
Supporting Variants
SamplesHG01967
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16192719
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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