A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330548



Internal ID15177537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197786427..197787994hg38UCSC Ensembl
Innerchr1:197786426..197787995hg38UCSC Ensembl
Outerchr1:197786317..197788114hg38UCSC Ensembl
chr1:197755557..197757124hg19UCSC Ensembl
Innerchr1:197755556..197757125hg19UCSC Ensembl
Outerchr1:197755447..197757244hg19UCSC Ensembl
chr1:196022180..196023747hg18UCSC Ensembl
Innerchr1:196023748..196022179hg18UCSC Ensembl
Outerchr1:196022070..196023867hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg381568
hg191568
hg181568
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8808941
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330548
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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