A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696288



Internal ID15057170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:37517876..37518674hg38UCSC Ensembl
Innerchr8:37517875..37518675hg38UCSC Ensembl
Outerchr8:37516876..37519674hg38UCSC Ensembl
chr8:37375394..37376192hg19UCSC Ensembl
Innerchr8:37375393..37376193hg19UCSC Ensembl
Outerchr8:37374394..37377192hg19UCSC Ensembl
chr8:37494552..37495350hg18UCSC Ensembl
Innerchr8:37495351..37494551hg18UCSC Ensembl
Outerchr8:37493552..37496350hg18UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3371945
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696288
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