A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16131179



Internal ID6062032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:5760821..5832574hg38UCSC Ensembl
Innerchr20:5760971..5832424hg38UCSC Ensembl
Outerchr20:5760671..5832724hg38UCSC Ensembl
chr20:5741467..5813220hg19UCSC Ensembl
Innerchr20:5741617..5813070hg19UCSC Ensembl
Outerchr20:5741317..5813370hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3871754
hg1971754
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645109
Supporting Variants
SamplesNA19454
Known GenesC20orf196
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16131179
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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