A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837471



Internal ID15081819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78358354..78358355hg38UCSC Ensembl
Innerchr5:78358315..78358394hg38UCSC Ensembl
Outerchr5:78358314..78358395hg38UCSC Ensembl
chr5:77654178..77654179hg19UCSC Ensembl
Innerchr5:77654139..77654218hg19UCSC Ensembl
Outerchr5:77654138..77654219hg19UCSC Ensembl
chr5:77689934..77689935hg18UCSC Ensembl
Innerchr5:77689974..77689895hg18UCSC Ensembl
Outerchr5:77689894..77689975hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38159
hg19159
hg18159
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309835
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837471
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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