A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426745



Internal ID15273702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:59355402..59355900hg38UCSC Ensembl
Innerchr20:59355401..59355901hg38UCSC Ensembl
Outerchr20:59354402..59356900hg38UCSC Ensembl
chr20:57930457..57930955hg19UCSC Ensembl
Innerchr20:57930456..57930956hg19UCSC Ensembl
Outerchr20:57929457..57931955hg19UCSC Ensembl
chr20:57363852..57364350hg18UCSC Ensembl
Innerchr20:57364351..57363851hg18UCSC Ensembl
Outerchr20:57362852..57365350hg18UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38499
hg19499
hg18499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692580
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426745
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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