A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309475



Internal ID15156425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45802866..45802867hg38UCSC Ensembl
Innerchr20:45802840..45802893hg38UCSC Ensembl
Outerchr20:45802839..45802894hg38UCSC Ensembl
chr20:44431505..44431506hg19UCSC Ensembl
Innerchr20:44431479..44431532hg19UCSC Ensembl
Outerchr20:44431478..44431533hg19UCSC Ensembl
chr20:43864912..43864913hg18UCSC Ensembl
Innerchr20:43864939..43864886hg18UCSC Ensembl
Outerchr20:43864885..43864940hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38296
hg19296
hg18296
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838347, essv7837789, essv7838493, essv7837997
SamplesNA12891, NA19238, NA12878, NA12892
Known GenesDNTTIP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309475
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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