A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16200276



Internal ID6091507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:52038112..52038954hg38UCSC Ensembl
Innerchr20:52038117..52038950hg38UCSC Ensembl
Outerchr20:52038108..52038959hg38UCSC Ensembl
chr20:50654651..50655493hg19UCSC Ensembl
Innerchr20:50654656..50655489hg19UCSC Ensembl
Outerchr20:50654647..50655498hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38843
hg19843
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646079
Supporting Variants
SamplesNA19472
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16200276
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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