A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7755691



Internal ID14851053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159300449..159300450hg38UCSC Ensembl
Innerchr5:159300404..159300495hg38UCSC Ensembl
Outerchr5:159300403..159300496hg38UCSC Ensembl
chr5:158727457..158727458hg19UCSC Ensembl
Innerchr5:158727412..158727503hg19UCSC Ensembl
Outerchr5:158727411..158727504hg19UCSC Ensembl
chr5:158660035..158660036hg18UCSC Ensembl
Innerchr5:158660081..158659990hg18UCSC Ensembl
Outerchr5:158659989..158660082hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38232
hg19232
hg18232
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304897
Supporting Variants
SamplesNA19108
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7755691
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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