A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864499



Internal ID13317010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:108507103..108507115hg38UCSC Ensembl
Innerchr5:108507105..108507113hg38UCSC Ensembl
Outerchr5:108507101..108507117hg38UCSC Ensembl
chr5:107842804..107842816hg19UCSC Ensembl
Innerchr5:107842806..107842814hg19UCSC Ensembl
Outerchr5:107842802..107842818hg19UCSC Ensembl
chr5:107870703..107870715hg18UCSC Ensembl
Innerchr5:107870705..107870713hg18UCSC Ensembl
Outerchr5:107870701..107870717hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3328462
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864499
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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