A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3375868



Internal ID14876133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:48768572..48768572hg38UCSC Ensembl
Innerchr20:48768571..48768573hg38UCSC Ensembl
Outerchr20:48768522..48768622hg38UCSC Ensembl
chr20:47385109..47385109hg19UCSC Ensembl
Innerchr20:47385108..47385110hg19UCSC Ensembl
Outerchr20:47385059..47385159hg19UCSC Ensembl
chr20:46818516..46818516hg18UCSC Ensembl
Innerchr20:46818517..46818515hg18UCSC Ensembl
Outerchr20:46818466..46818566hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38297
hg19297
hg18297
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740991
SamplesNA19240
Known GenesPREX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3375868
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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