A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3342903



Internal ID14843171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1277108..1278406hg38UCSC Ensembl
Innerchr20:1277406..1278108hg38UCSC Ensembl
Outerchr20:1276108..1279406hg38UCSC Ensembl
chr20:1257752..1259050hg19UCSC Ensembl
Innerchr20:1258050..1258752hg19UCSC Ensembl
Outerchr20:1256752..1260050hg19UCSC Ensembl
chr20:1205752..1207050hg18UCSC Ensembl
Innerchr20:1206752..1206050hg18UCSC Ensembl
Outerchr20:1204752..1208050hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2383e59
Supporting Variantsessv8692444
SamplesNA19240
Known GenesSNPH
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3342903
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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