A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303109



Internal ID15150057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169913433..169913434hg38UCSC Ensembl
Innerchr4:169913411..169913456hg38UCSC Ensembl
Outerchr4:169913410..169913457hg38UCSC Ensembl
chr4:170834584..170834585hg19UCSC Ensembl
Innerchr4:170834562..170834607hg19UCSC Ensembl
Outerchr4:170834561..170834608hg19UCSC Ensembl
chr4:171071159..171071160hg18UCSC Ensembl
Innerchr4:171071182..171071137hg18UCSC Ensembl
Outerchr4:171071136..171071183hg18UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7765166, essv7763513, essv7764372, essv7767950, essv7764006, essv7769706, essv7763764, essv7765263, essv7767498, essv7768487, essv7766179, essv7769007, essv7769179, essv7766882, essv7765635, essv7764652, essv7766353
SamplesNA12045, NA12812, NA12891, NA07347, NA12287, NA18970, NA19238, NA12815, NA12878, NA12872, NA12234, NA11894, NA12043, NA11881, NA12873, NA12874, NA19143
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303109
Frequency
Sample Size185
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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