A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16218894



Internal ID2918067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57050815..57052393hg38UCSC Ensembl
Innerchr20:57050819..57052389hg38UCSC Ensembl
Outerchr20:57050811..57052397hg38UCSC Ensembl
chr20:55625871..55627449hg19UCSC Ensembl
Innerchr20:55625875..55627445hg19UCSC Ensembl
Outerchr20:55625867..55627453hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg381579
hg191579
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646208
Supporting Variants
SamplesHG02583
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16218894
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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