A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645421



Internal ID6685483
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16153976
SamplesHG02232
Known GenesPCSK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645421
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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