A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3389079



Internal ID15236046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:62624519..62624535hg38UCSC Ensembl
Innerchr8:62624521..62624533hg38UCSC Ensembl
Outerchr8:62624517..62624537hg38UCSC Ensembl
chr8:63537078..63537094hg19UCSC Ensembl
Innerchr8:63537080..63537092hg19UCSC Ensembl
Outerchr8:63537076..63537096hg19UCSC Ensembl
chr8:63699632..63699648hg18UCSC Ensembl
Innerchr8:63699634..63699646hg18UCSC Ensembl
Outerchr8:63699630..63699650hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864855
SamplesNA12005
Known GenesNKAIN3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3389079
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