A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864505



Internal ID14951031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119584453..119584495hg38UCSC Ensembl
Innerchr5:119584403..119584545hg38UCSC Ensembl
Outerchr5:119584361..119584587hg38UCSC Ensembl
chr5:118920148..118920190hg19UCSC Ensembl
Innerchr5:118920098..118920240hg19UCSC Ensembl
Outerchr5:118920056..118920282hg19UCSC Ensembl
chr5:118948047..118948089hg18UCSC Ensembl
Innerchr5:118948139..118947997hg18UCSC Ensembl
Outerchr5:118947955..118948181hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3382360
Supporting Variants
SamplesNA19172
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864505
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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