A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16210672



Internal ID2583873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:55432791..55442057hg38UCSC Ensembl
Innerchr20:55432791..55442057hg38UCSC Ensembl
Outerchr20:55432291..55442557hg38UCSC Ensembl
chr20:54049329..54058595hg19UCSC Ensembl
Innerchr20:54049329..54058595hg19UCSC Ensembl
Outerchr20:54048829..54059095hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg389267
hg199267
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646166
Supporting Variants
SamplesHG02285
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16210672
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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