A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308354



Internal ID15155302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43376723..43376724hg38UCSC Ensembl
Innerchr1:43376707..43376740hg38UCSC Ensembl
Outerchr1:43376706..43376741hg38UCSC Ensembl
chr1:43842394..43842395hg19UCSC Ensembl
Innerchr1:43842378..43842411hg19UCSC Ensembl
Outerchr1:43842377..43842412hg19UCSC Ensembl
chr1:43614981..43614982hg18UCSC Ensembl
Innerchr1:43614998..43614965hg18UCSC Ensembl
Outerchr1:43614964..43614999hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7841617, essv7842439
SamplesNA19238, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308354
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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