A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3432792



Internal ID15279748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7572820..7574718hg38UCSC Ensembl
Innerchr8:7573718..7573820hg38UCSC Ensembl
Outerchr8:7571820..7575718hg38UCSC Ensembl
chr8:7430342..7432240hg19UCSC Ensembl
Innerchr8:7431240..7431342hg19UCSC Ensembl
Outerchr8:7429342..7433240hg19UCSC Ensembl
chr8:7417752..7419650hg18UCSC Ensembl
Innerchr8:7418752..7418650hg18UCSC Ensembl
Outerchr8:7416752..7420650hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4049e59
Supporting Variantsessv8696381
SamplesNA12891
Known GenesFAM90A7P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3432792
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