A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348946



Internal ID15195928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:18257448..18257467hg38UCSC Ensembl
Innerchr5:18257444..18257471hg38UCSC Ensembl
Outerchr5:18257425..18257490hg38UCSC Ensembl
chr5:18257557..18257576hg19UCSC Ensembl
Innerchr5:18257553..18257580hg19UCSC Ensembl
Outerchr5:18257534..18257599hg19UCSC Ensembl
chr5:18293314..18293333hg18UCSC Ensembl
Innerchr5:18293337..18293310hg18UCSC Ensembl
Outerchr5:18293291..18293356hg18UCSC Ensembl
Cytoband5p15.1
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 Variantsessv9621214, essv9621203
SamplesNA12814, NA12874
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348946
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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