A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8644746



Internal ID15142558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56388094..56388094hg38UCSC Ensembl
Innerchr20:56388093..56388095hg38UCSC Ensembl
Outerchr20:56388054..56388114hg38UCSC Ensembl
chr20:54963150..54963150hg19UCSC Ensembl
Innerchr20:54963149..54963151hg19UCSC Ensembl
Outerchr20:54963110..54963170hg19UCSC Ensembl
chr20:54396557..54396557hg18UCSC Ensembl
Innerchr20:54396558..54396556hg18UCSC Ensembl
Outerchr20:54396517..54396577hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3351171
Supporting Variants
Samples
Known GenesAURKA
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8644746
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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