A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308186



Internal ID14808448
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 StatusM
Merged Variants
Supporting Variantsessv7836690, essv7837862
SamplesNA19239, NA12892
Known GenesBHMT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308186
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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