A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692476



Internal ID13737686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:25756316..25788414hg38UCSC Ensembl
Innerchr20:25757316..25787414hg38UCSC Ensembl
Outerchr20:25755316..25789414hg38UCSC Ensembl
chr20:25736952..25769050hg19UCSC Ensembl
Innerchr20:25737952..25768050hg19UCSC Ensembl
Outerchr20:25735952..25770050hg19UCSC Ensembl
chr20:25684952..25717050hg18UCSC Ensembl
Innerchr20:25685952..25716050hg18UCSC Ensembl
Outerchr20:25683952..25718050hg18UCSC Ensembl
Cytoband20p11.1
Allele length
AssemblyAllele length
hg3832099
hg1932099
hg1832099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3429256
Supporting Variants
SamplesNA12892
Known GenesFAM182B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692476
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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