A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8940040



Internal ID14407604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58570382..58570451hg38UCSC Ensembl
Innerchr8:58570382..58570451hg38UCSC Ensembl
Outerchr8:58570313..58570520hg38UCSC Ensembl
chr8:59482941..59483010hg19UCSC Ensembl
Innerchr8:59482941..59483010hg19UCSC Ensembl
Outerchr8:59482872..59483079hg19UCSC Ensembl
chr8:59645495..59645564hg18UCSC Ensembl
Innerchr8:59645564..59645495hg18UCSC Ensembl
Outerchr8:59645426..59645633hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3346499
Supporting Variants
SamplesNA18907
Known GenesSDCBP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8940040
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