A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645479



Internal ID6685541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:20486024..21175964hg38UCSC Ensembl
Innerchr20:20486174..21175814hg38UCSC Ensembl
Outerchr20:20485874..21176114hg38UCSC Ensembl
chr20:20466668..21156604hg19UCSC Ensembl
Innerchr20:20466818..21156454hg19UCSC Ensembl
Outerchr20:20466518..21156754hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38689941
hg19689937
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16155651
SamplesNA19454
Known GenesPLK1S1, RALGAPA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645479
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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