A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8927392



Internal ID12684985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168817999..168818011hg38UCSC Ensembl
Innerchr5:168817993..168818015hg38UCSC Ensembl
Outerchr5:168817983..168818027hg38UCSC Ensembl
chr5:168245004..168245016hg19UCSC Ensembl
Innerchr5:168244998..168245020hg19UCSC Ensembl
Outerchr5:168244988..168245032hg19UCSC Ensembl
chr5:168177582..168177594hg18UCSC Ensembl
Innerchr5:168177598..168177576hg18UCSC Ensembl
Outerchr5:168177566..168177610hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38220
hg19220
hg18220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3354715
Supporting Variants
SamplesNA07037
Known GenesSLIT3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8927392
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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