A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426801



Internal ID15273758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78358352..78358371hg38UCSC Ensembl
Innerchr5:78358348..78358375hg38UCSC Ensembl
Outerchr5:78358329..78358394hg38UCSC Ensembl
chr5:77654176..77654195hg19UCSC Ensembl
Innerchr5:77654172..77654199hg19UCSC Ensembl
Outerchr5:77654153..77654218hg19UCSC Ensembl
chr5:77689932..77689951hg18UCSC Ensembl
Innerchr5:77689955..77689928hg18UCSC Ensembl
Outerchr5:77689909..77689974hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9622925, essv9622936
SamplesNA12872, NA12234
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426801
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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