A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8823141



Internal ID13684508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161753816..161753816hg38UCSC Ensembl
Innerchr1:161753815..161753817hg38UCSC Ensembl
Outerchr1:161753756..161753866hg38UCSC Ensembl
chr1:161723606..161723606hg19UCSC Ensembl
Innerchr1:161723605..161723607hg19UCSC Ensembl
Outerchr1:161723546..161723656hg19UCSC Ensembl
chr1:159990230..159990230hg18UCSC Ensembl
Innerchr1:159990231..159990229hg18UCSC Ensembl
Outerchr1:159990170..159990280hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3445971
Supporting Variants
SamplesNA12878
Known GenesDUSP12
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8823141
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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