A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7751742



Internal ID13168187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:98525604..98525605hg38UCSC Ensembl
Innerchr4:98525549..98525660hg38UCSC Ensembl
Outerchr4:98525548..98525661hg38UCSC Ensembl
chr4:99446755..99446756hg19UCSC Ensembl
Innerchr4:99446700..99446811hg19UCSC Ensembl
Outerchr4:99446699..99446812hg19UCSC Ensembl
chr4:99665778..99665779hg18UCSC Ensembl
Innerchr4:99665834..99665723hg18UCSC Ensembl
Outerchr4:99665722..99665835hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305485
Supporting Variants
SamplesNA11881
Known GenesTSPAN5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7751742
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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