A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308980



Internal ID15155929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:42086017..42086018hg38UCSC Ensembl
Innerchr4:42086000..42086035hg38UCSC Ensembl
Outerchr4:42085999..42086036hg38UCSC Ensembl
chr4:42088034..42088035hg19UCSC Ensembl
Innerchr4:42088017..42088052hg19UCSC Ensembl
Outerchr4:42088016..42088053hg19UCSC Ensembl
chr4:41782791..41782792hg18UCSC Ensembl
Innerchr4:41782809..41782774hg18UCSC Ensembl
Outerchr4:41782773..41782810hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38303
hg19303
hg18303
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7841151, essv7840263, essv7840553
SamplesNA12891, NA12878, NA12892
Known GenesSLC30A9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308980
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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