A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864537



Internal ID12970384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:169032601..169032632hg38UCSC Ensembl
Innerchr5:169032603..169032630hg38UCSC Ensembl
Outerchr5:169032599..169032634hg38UCSC Ensembl
chr5:168459606..168459637hg19UCSC Ensembl
Innerchr5:168459608..168459635hg19UCSC Ensembl
Outerchr5:168459604..168459639hg19UCSC Ensembl
chr5:168392184..168392215hg18UCSC Ensembl
Innerchr5:168392186..168392213hg18UCSC Ensembl
Outerchr5:168392182..168392217hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3435779
Supporting Variants
SamplesNA12005
Known GenesSLIT3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864537
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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