A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837035



Internal ID15038288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:77916342..77916343hg38UCSC Ensembl
Innerchr4:77916317..77916368hg38UCSC Ensembl
Outerchr4:77916316..77916369hg38UCSC Ensembl
chr4:78837496..78837497hg19UCSC Ensembl
Innerchr4:78837471..78837522hg19UCSC Ensembl
Outerchr4:78837470..78837523hg19UCSC Ensembl
chr4:79056520..79056521hg18UCSC Ensembl
Innerchr4:79056546..79056495hg18UCSC Ensembl
Outerchr4:79056494..79056547hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38195
hg19195
hg18195
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309424
Supporting Variants
SamplesNA19239
Known GenesMRPL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837035
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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