A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8670445



Internal ID14750627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:71302519..71302609hg38UCSC Ensembl
Innerchr10:71302544..71302584hg38UCSC Ensembl
Outerchr10:71302494..71302634hg38UCSC Ensembl
chr10:73062276..73062366hg19UCSC Ensembl
Innerchr10:73062301..73062341hg19UCSC Ensembl
Outerchr10:73062251..73062391hg19UCSC Ensembl
chr10:72732282..72732372hg18UCSC Ensembl
Innerchr10:72732307..72732347hg18UCSC Ensembl
Outerchr10:72732257..72732397hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3891
hg1991
hg1891
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3434392
Supporting Variants
SamplesNA19240
Known GenesUNC5B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8670445
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