A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16218926



Internal ID6320507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57935012..57955659hg38UCSC Ensembl
Innerchr20:57935162..57955509hg38UCSC Ensembl
Outerchr20:57934862..57955809hg38UCSC Ensembl
chr20:56510068..56530715hg19UCSC Ensembl
Innerchr20:56510218..56530565hg19UCSC Ensembl
Outerchr20:56509918..56530865hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3820648
hg1920648
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646216
Supporting Variants
SamplesNA19917
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16218926
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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