A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646077



Internal ID6686136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:52008782..52013756hg38UCSC Ensembl
Innerchr20:52008782..52013756hg38UCSC Ensembl
Outerchr20:52008634..52013915hg38UCSC Ensembl
chr20:50625321..50630295hg19UCSC Ensembl
Innerchr20:50625321..50630295hg19UCSC Ensembl
Outerchr20:50625173..50630454hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg384975
hg194975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16200243, essv16200244
SamplesHG00683, HG01804
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646077
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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