A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675856



Internal ID14668813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168817972..168818010hg38UCSC Ensembl
Innerchr5:168817980..168818000hg38UCSC Ensembl
Outerchr5:168817942..168818040hg38UCSC Ensembl
chr5:168244977..168245015hg19UCSC Ensembl
Innerchr5:168244985..168245005hg19UCSC Ensembl
Outerchr5:168244947..168245045hg19UCSC Ensembl
chr5:168177555..168177593hg18UCSC Ensembl
Innerchr5:168177583..168177563hg18UCSC Ensembl
Outerchr5:168177525..168177623hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38251
hg19251
hg18251
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3390212
Supporting Variants
SamplesNA19238
Known GenesSLIT3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675856
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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