A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302779



Internal ID15149727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54162520..54162594hg38UCSC Ensembl
Innerchr20:54162557..54162557hg38UCSC Ensembl
Outerchr20:54162420..54162694hg38UCSC Ensembl
chr20:52779059..52779133hg19UCSC Ensembl
Innerchr20:52779096..52779096hg19UCSC Ensembl
Outerchr20:52778959..52779233hg19UCSC Ensembl
chr20:52212466..52212540hg18UCSC Ensembl
Innerchr20:52212503..52212503hg18UCSC Ensembl
Outerchr20:52212366..52212640hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3875
hg1975
hg1875
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7733884, essv7732243, essv7735936, essv7733158, essv7732001
SamplesNA18870, NA18942, NA19138, NA18949, NA18532
Known GenesCYP24A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302779
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer