A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3447351



Internal ID14947615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2553995..2567471hg38UCSC Ensembl
Innerchr1:2554089..2565481hg38UCSC Ensembl
Outerchr1:2553995..2567581hg38UCSC Ensembl
chr1:2485434..2498910hg19UCSC Ensembl
Innerchr1:2485528..2496920hg19UCSC Ensembl
Outerchr1:2485434..2499020hg19UCSC Ensembl
chr1:2475508..2490470hg18UCSC Ensembl
Innerchr1:2477498..2488890hg18UCSC Ensembl
Outerchr1:2475398..2490590hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3813477
hg1913477
hg1814963
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8808959
SamplesNA12878
Known GenesLOC100133445, TNFRSF14
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3447351
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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