A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16218892



Internal ID3664628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57044028..57047604hg38UCSC Ensembl
Innerchr20:57044028..57047604hg38UCSC Ensembl
Outerchr20:57043722..57047939hg38UCSC Ensembl
chr20:55619084..55622660hg19UCSC Ensembl
Innerchr20:55619084..55622660hg19UCSC Ensembl
Outerchr20:55618778..55622995hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg383577
hg193577
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646207
Supporting Variants
SamplesHG03265
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16218892
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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