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esv4008840

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: No
  • Region Size:3,074

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 548 SVs from 53 studies. See in: genome view    
Remapped(Score: Pass):49,384,418-49,387,491Question Mark
Overlapping variant regions from other studies: 502 SVs from 51 studies. See in: genome view    
Submitted genomic49,780,286-49,781,143Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
esv4008840RemappedPassGRCh38.p12Primary AssemblyFirst PassNC_000022.11Chr2249,384,41849,387,491
esv4008840Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000022.10Chr2249,780,28649,781,143

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject Phenotype
essv26065257duplicationSequencingSplit read and paired-end mappingJuvenile idiopathic arthritis

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
essv26065257RemappedPassNC_000022.11:g.493
84418_49387491dup
GRCh38.p12First PassNC_000022.11Chr2249,384,41849,387,491
essv26065257Submitted genomicNC_000022.10:g.497
80286_49781143dup
GRCh37 (hg19)NC_000022.10Chr2249,780,28649,781,143

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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