A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8899034



Internal ID14516392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58739625..58739639hg38UCSC Ensembl
Innerchr1:58739616..58739646hg38UCSC Ensembl
Outerchr1:58739602..58739660hg38UCSC Ensembl
chr1:59205297..59205311hg19UCSC Ensembl
Innerchr1:59205288..59205318hg19UCSC Ensembl
Outerchr1:59205274..59205332hg19UCSC Ensembl
chr1:58977885..58977899hg18UCSC Ensembl
Innerchr1:58977906..58977876hg18UCSC Ensembl
Outerchr1:58977862..58977920hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38263
hg19263
hg18263
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3436296
Supporting Variants
SamplesNA18945
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8899034
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer