A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837862



Internal ID13373852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79130726..79130727hg38UCSC Ensembl
Innerchr5:79130696..79130757hg38UCSC Ensembl
Outerchr5:79130695..79130758hg38UCSC Ensembl
chr5:78426549..78426550hg19UCSC Ensembl
Innerchr5:78426519..78426580hg19UCSC Ensembl
Outerchr5:78426518..78426581hg19UCSC Ensembl
chr5:78462305..78462306hg18UCSC Ensembl
Innerchr5:78462336..78462275hg18UCSC Ensembl
Outerchr5:78462274..78462337hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg381613
hg191613
hg181613
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308186
Supporting Variants
SamplesNA12892
Known GenesBHMT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837862
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