A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304524



Internal ID15151472
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 StatusM
Merged Variants
Supporting Variantsessv7783965, essv7833797, essv7817622, essv7800389, essv7798135, essv7811876, essv7805128, essv7772679, essv7785524, essv7810011, essv7781349, essv7783056, essv7806330, essv7774921, essv7775388, essv7823155, essv7818957, essv7822103, essv7779574, essv7814988, essv7825700, essv7809419, essv7826485, essv7794197, essv7786138
SamplesNA18861, NA12814, NA12414, NA18504, NA12155, NA07346, NA18916, NA11994, NA18520, NA11831, NA10847, NA12872, NA18572, NA18907, NA18537, NA18573, NA18853, NA12144, NA11881, NA07051, NA12874, NA19093, NA19129, NA12006, NA12776
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304524
Frequency
Sample Size185
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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