A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7735936



Internal ID14553001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54162557..54162558hg38UCSC Ensembl
Outerchr20:54162421..54162694hg38UCSC Ensembl
Innerchr20:52779096..52779097hg19UCSC Ensembl
Outerchr20:52778960..52779233hg19UCSC Ensembl
Innerchr20:52212504..52212503hg18UCSC Ensembl
Outerchr20:52212367..52212640hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38274
hg19274
hg18274
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302779
Supporting Variants
SamplesNA18949
Known GenesCYP24A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7735936
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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