A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7822103



Internal ID14180463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:18257444..18257445hg38UCSC Ensembl
Innerchr5:18257427..18257462hg38UCSC Ensembl
Outerchr5:18257426..18257463hg38UCSC Ensembl
chr5:18257553..18257554hg19UCSC Ensembl
Innerchr5:18257536..18257571hg19UCSC Ensembl
Outerchr5:18257535..18257572hg19UCSC Ensembl
chr5:18293310..18293311hg18UCSC Ensembl
Innerchr5:18293328..18293293hg18UCSC Ensembl
Outerchr5:18293292..18293329hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38177
hg19177
hg18177
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304524
Supporting Variants
SamplesNA18572
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7822103
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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