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esv2830437

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:424,761

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 1119 SVs from 64 studies. See in: genome view    
Remapped(Score: Perfect):56,873,617-57,298,377Question Mark
Overlapping variant regions from other studies: 1119 SVs from 64 studies. See in: genome view    
Remapped(Score: Perfect):57,340,335-57,765,095Question Mark
Overlapping variant regions from other studies: 276 SVs from 14 studies. See in: genome view    
Submitted genomic56,410,088-56,834,848Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
esv2830437RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000014.9Chr1456,873,61757,298,377
esv2830437RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000014.8Chr1457,340,33557,765,095
esv2830437Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000014.7Chr1456,410,08856,834,848

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationOther Calls in this Sample and Study
essv7099926duplicationD34SNP arraySNP genotyping analysisSeizureUncertain significanceSubmitteressv7099959, essv7099925, essv7100009

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
essv7099926RemappedPerfectNC_000014.9:g.(?_5
6873617)_(57298377
_?)dup
GRCh38.p12First PassNC_000014.9Chr1456,873,61757,298,377
essv7099926RemappedPerfectNC_000014.8:g.(?_5
7340335)_(57765095
_?)dup
GRCh37.p13First PassNC_000014.8Chr1457,340,33557,765,095
essv7099926Submitted genomicNC_000014.7:g.(?_5
6410088)_(56834848
_?)dup
NCBI36 (hg18)NC_000014.7Chr1456,410,08856,834,848

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDSample IDHGVSTypeSubject PhenotypeClinical InterpretationSource of InterpretationGenderOther Calls in this Sample and Study
essv7099926D34NCBI36: NC_000014.7:g.(?_56410088)_(56834848_?)dupduplicationSeizureUncertain significanceSubmitterFemaleessv7099959, essv7099925, essv7100009

No genotype data were submitted for this variant

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