A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8927500



Internal ID13804959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:171240091..171240171hg38UCSC Ensembl
Innerchr5:171240118..171240142hg38UCSC Ensembl
Outerchr5:171240038..171240222hg38UCSC Ensembl
chr5:170667095..170667175hg19UCSC Ensembl
Innerchr5:170667122..170667146hg19UCSC Ensembl
Outerchr5:170667042..170667226hg19UCSC Ensembl
chr5:170599700..170599780hg18UCSC Ensembl
Innerchr5:170599751..170599727hg18UCSC Ensembl
Outerchr5:170599647..170599831hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3410773
Supporting Variants
SamplesNA18504
Known GenesRANBP17
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8927500
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