A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303481



Internal ID14803743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9627358..9627359hg38UCSC Ensembl
Innerchr5:9627309..9627408hg38UCSC Ensembl
Outerchr5:9627308..9627409hg38UCSC Ensembl
chr5:9627470..9627471hg19UCSC Ensembl
Innerchr5:9627421..9627520hg19UCSC Ensembl
Outerchr5:9627420..9627521hg19UCSC Ensembl
chr5:9680470..9680471hg18UCSC Ensembl
Innerchr5:9680520..9680421hg18UCSC Ensembl
Outerchr5:9680420..9680521hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38158
hg19158
hg18158
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7750489, essv7755393, essv7754162
SamplesNA18853, NA19257, NA19108
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303481
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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