A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16180418



Internal ID6171507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38184572..38200199hg38UCSC Ensembl
Innerchr20:38184722..38200049hg38UCSC Ensembl
Outerchr20:38184422..38200349hg38UCSC Ensembl
chr20:36812974..36828601hg19UCSC Ensembl
Innerchr20:36813124..36828451hg19UCSC Ensembl
Outerchr20:36812824..36828751hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3815628
hg1915628
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645773
Supporting Variants
SamplesNA19711
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16180418
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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