A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16207745



Internal ID6178238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54855564..54858176hg38UCSC Ensembl
Innerchr20:54855564..54858176hg38UCSC Ensembl
Outerchr20:54855355..54858374hg38UCSC Ensembl
chr20:53472103..53474715hg19UCSC Ensembl
Innerchr20:53472103..53474715hg19UCSC Ensembl
Outerchr20:53471894..53474913hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg382613
hg192613
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646146
Supporting Variants
SamplesNA19716
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16207745
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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