A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9621214



Internal ID13604678
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 StatusS
Merged Variantsesv3348946
Supporting Variants
SamplesNA12814
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9621214
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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