esv2830432

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:12,891,029

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 17610 SVs from 64 studies. See in: genome view    
Remapped(Score: Good):157,782,406-170,673,434Question Mark
Overlapping variant regions from other studies: 17622 SVs from 64 studies. See in: genome view    
Remapped(Score: Good):158,203,438-170,982,522Question Mark
Overlapping variant regions from other studies: 12150 SVs from 34 studies. See in: genome view    
Submitted genomic158,123,426-170,824,447Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
esv2830432RemappedGoodGRCh38 (hg38)Primary AssemblyFirst PassNC_000006.12Chr6157,782,406170,673,434
esv2830432RemappedGoodGRCh37 (hg19)Primary AssemblyFirst PassNC_000006.11Chr6158,203,438170,982,522
esv2830432Submitted genomicNCBI36 (hg18)NC_000006.10Chr6158,123,426170,824,447

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisSubject PhenotypeClinical
essv7100007deletionD10SNP arraySNP genotyping analysisSeizurePathogenic

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
essv7100007RemappedGoodNC_000006.12:g.(?_157782406)_(170673434_?)delGRCh38 (hg38)Primary AssemblyFirst PassNC_000006.12Chr6157,782,406170,673,434
essv7100007RemappedGoodNC_000006.11:g.(?_158203438)_(170982522_?)delGRCh37 (hg19)Primary AssemblyFirst PassNC_000006.11Chr6158,203,438170,982,522
essv7100007Submitted genomicNC_000006.10:g.(?_158123426)_(170824447_?)delNCBI36 (hg18)NC_000006.10Chr6158,123,426170,824,447

There are no validations for this variant

Clinical Assertions

Variant Call IDSample IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationGender
essv7100007D10NC_000006.10:g.(?_158123426)_(170824447_?)deldeletionde novoSeizurePathogenicMale

There is no genotype information for this variant

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