A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308575



Internal ID15155524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84588871..84588872hg38UCSC Ensembl
Innerchr1:84588845..84588898hg38UCSC Ensembl
Outerchr1:84588844..84588899hg38UCSC Ensembl
chr1:85054554..85054555hg19UCSC Ensembl
Innerchr1:85054528..85054581hg19UCSC Ensembl
Outerchr1:85054527..85054582hg19UCSC Ensembl
chr1:84827142..84827143hg18UCSC Ensembl
Innerchr1:84827169..84827116hg18UCSC Ensembl
Outerchr1:84827115..84827170hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38280
hg19280
hg18280
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837288, essv7837794, essv7838826, essv7837031
SamplesNA19238, NA19239, NA12892, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308575
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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