A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8679032



Internal ID13669999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83020435..83020454hg38UCSC Ensembl
Innerchr5:83020431..83020458hg38UCSC Ensembl
Outerchr5:83020412..83020477hg38UCSC Ensembl
chr5:82316254..82316273hg19UCSC Ensembl
Innerchr5:82316250..82316277hg19UCSC Ensembl
Outerchr5:82316231..82316296hg19UCSC Ensembl
chr5:82352010..82352029hg18UCSC Ensembl
Innerchr5:82352033..82352006hg18UCSC Ensembl
Outerchr5:82351987..82352052hg18UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3410614
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8679032
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