A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3360127



Internal ID14860389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1277208..1278306hg38UCSC Ensembl
Innerchr20:1277306..1278208hg38UCSC Ensembl
Outerchr20:1276208..1279306hg38UCSC Ensembl
chr20:1257852..1258950hg19UCSC Ensembl
Innerchr20:1257950..1258852hg19UCSC Ensembl
Outerchr20:1256852..1259950hg19UCSC Ensembl
chr20:1205852..1206950hg18UCSC Ensembl
Innerchr20:1206852..1205950hg18UCSC Ensembl
Outerchr20:1204852..1207950hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2383e59
Supporting Variantsessv8692445
SamplesNA19239
Known GenesSNPH
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3360127
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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