A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3451853



Internal ID15298798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:21209514..21209812hg38UCSC Ensembl
Innerchr20:21209513..21209813hg38UCSC Ensembl
Outerchr20:21208514..21210812hg38UCSC Ensembl
chr20:21190152..21190450hg19UCSC Ensembl
Innerchr20:21190151..21190451hg19UCSC Ensembl
Outerchr20:21189152..21191450hg19UCSC Ensembl
chr20:21138152..21138450hg18UCSC Ensembl
Innerchr20:21138451..21138151hg18UCSC Ensembl
Outerchr20:21137152..21139450hg18UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692457
SamplesNA19239
Known GenesPLK1S1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3451853
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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