A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692615



Internal ID15112969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63846655..63847553hg38UCSC Ensembl
Innerchr20:63846654..63847554hg38UCSC Ensembl
Outerchr20:63845655..63848553hg38UCSC Ensembl
chr20:62478008..62478906hg19UCSC Ensembl
Innerchr20:62478007..62478907hg19UCSC Ensembl
Outerchr20:62477008..62479906hg19UCSC Ensembl
chr20:61948452..61949350hg18UCSC Ensembl
Innerchr20:61949351..61948451hg18UCSC Ensembl
Outerchr20:61947452..61950350hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3449499
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692615
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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