A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16205019



Internal ID1305954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53895965..53904955hg38UCSC Ensembl
Innerchr20:53896115..53904805hg38UCSC Ensembl
Outerchr20:53895815..53905105hg38UCSC Ensembl
chr20:52512504..52521494hg19UCSC Ensembl
Innerchr20:52512654..52521344hg19UCSC Ensembl
Outerchr20:52512354..52521644hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg388991
hg198991
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646130
Supporting Variants
SamplesHG01142
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16205019
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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