A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8916046



Internal ID13921718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:153925747..153925777hg38UCSC Ensembl
Innerchr3:153925761..153925761hg38UCSC Ensembl
Outerchr3:153925733..153925791hg38UCSC Ensembl
chr3:153643536..153643566hg19UCSC Ensembl
Innerchr3:153643550..153643550hg19UCSC Ensembl
Outerchr3:153643522..153643580hg19UCSC Ensembl
chr3:155126226..155126256hg18UCSC Ensembl
Innerchr3:155126240..155126240hg18UCSC Ensembl
Outerchr3:155126212..155126270hg18UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg38163
hg19163
hg18163
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3366411
Supporting Variants
SamplesNA18523
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8916046
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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