A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16153976



Internal ID6155792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17239984..17254206hg38UCSC Ensembl
Innerchr20:17240010..17254181hg38UCSC Ensembl
Outerchr20:17239959..17254232hg38UCSC Ensembl
chr20:17220629..17234851hg19UCSC Ensembl
Innerchr20:17220655..17234826hg19UCSC Ensembl
Outerchr20:17220604..17234877hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3814223
hg1914223
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645421
Supporting Variants
SamplesHG02232
Known GenesPCSK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16153976
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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