A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675874



Internal ID15048961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176896939..176896957hg38UCSC Ensembl
Innerchr5:176896936..176896957hg38UCSC Ensembl
Outerchr5:176896918..176896978hg38UCSC Ensembl
chr5:176323940..176323958hg19UCSC Ensembl
Innerchr5:176323937..176323958hg19UCSC Ensembl
Outerchr5:176323919..176323979hg19UCSC Ensembl
chr5:176256546..176256564hg18UCSC Ensembl
Innerchr5:176256564..176256543hg18UCSC Ensembl
Outerchr5:176256525..176256585hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38246
hg19246
hg18246
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3332381
Supporting Variants
SamplesNA19239
Known GenesHK3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675874
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