A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16143131



Internal ID2932737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:12477646..12494777hg38UCSC Ensembl
Innerchr20:12478146..12494277hg38UCSC Ensembl
Outerchr20:12476646..12495777hg38UCSC Ensembl
chr20:12458294..12475425hg19UCSC Ensembl
Innerchr20:12458794..12474925hg19UCSC Ensembl
Outerchr20:12457294..12476425hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3817132
hg1917132
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645259
Supporting Variants
SamplesHG02594
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16143131
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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