A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676025



Internal ID13377515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79130723..79130736hg38UCSC Ensembl
Innerchr5:79130713..79130744hg38UCSC Ensembl
Outerchr5:79130700..79130757hg38UCSC Ensembl
chr5:78426546..78426559hg19UCSC Ensembl
Innerchr5:78426536..78426567hg19UCSC Ensembl
Outerchr5:78426523..78426580hg19UCSC Ensembl
chr5:78462302..78462315hg18UCSC Ensembl
Innerchr5:78462323..78462292hg18UCSC Ensembl
Outerchr5:78462279..78462336hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg381595
hg191595
hg181595
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3408955
Supporting Variants
SamplesNA12892
Known GenesBHMT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676025
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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