A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16204587



Internal ID3443729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53549916..53553789hg38UCSC Ensembl
Innerchr20:53549966..53553739hg38UCSC Ensembl
Outerchr20:53549814..53553891hg38UCSC Ensembl
chr20:52166455..52170328hg19UCSC Ensembl
Innerchr20:52166505..52170278hg19UCSC Ensembl
Outerchr20:52166353..52170430hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg383874
hg193874
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646116
Supporting Variants
SamplesHG03074
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16204587
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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