A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309841



Internal ID15156792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78643152..78643153hg38UCSC Ensembl
Innerchr1:78643126..78643179hg38UCSC Ensembl
Outerchr1:78643125..78643180hg38UCSC Ensembl
chr1:79108837..79108838hg19UCSC Ensembl
Innerchr1:79108811..79108864hg19UCSC Ensembl
Outerchr1:79108810..79108865hg19UCSC Ensembl
chr1:78881425..78881426hg18UCSC Ensembl
Innerchr1:78881452..78881399hg18UCSC Ensembl
Outerchr1:78881398..78881453hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38108
hg19108
hg18108
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7836805
SamplesNA19239
Known GenesIFI44L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309841
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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