U.S. flag

An official website of the United States government

esv3890817

  • Variant Calls:25
  • Validation:Not tested
  • Clinical Assertions: No
  • Region Size:16,114

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 1897 SVs from 95 studies. See in: genome view    
Remapped(Score: Perfect):31,306,916-31,323,029Question Mark
Overlapping variant regions from other studies: 1403 SVs from 40 studies. See in: genome view    
Remapped(Score: Good):2,609,147-2,625,230Question Mark
Overlapping variant regions from other studies: 494 SVs from 33 studies. See in: genome view    
Remapped(Score: Pass):2,615,913-2,625,775Question Mark
Overlapping variant regions from other studies: 1897 SVs from 95 studies. See in: genome view    
Remapped(Score: Perfect):31,274,693-31,290,806Question Mark
Overlapping variant regions from other studies: 1403 SVs from 40 studies. See in: genome view    
Remapped(Score: Good):2,608,445-2,624,528Question Mark
Overlapping variant regions from other studies: 785 SVs from 39 studies. See in: genome view    
Remapped(Score: Pass):2,621,533-2,631,393Question Mark
Overlapping variant regions from other studies: 1341 SVs from 30 studies. See in: genome view    
Submitted genomic31,382,672-31,398,785Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
esv3890817RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr631,306,91631,310,21131,318,60431,323,029
esv3890817RemappedGoodGRCh38.p12ALT_REF_LOCI_7Second PassNT_167249.2Chr6|NT_16
7249.2
2,609,1472,609,1472,625,2302,625,230
esv3890817RemappedPassGRCh38.p12ALT_REF_LOCI_4Second PassNT_167246.2Chr6|NT_16
7246.2
2,615,9132,615,9132,625,775-
esv3890817RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000006.11Chr631,274,69331,277,98831,286,38131,290,806
esv3890817RemappedGoodGRCh37.p13ALT_REF_LOCI_7Second PassNT_167249.1Chr6|NT_16
7249.1
2,608,4452,608,4452,624,5282,624,528
esv3890817RemappedPassGRCh37.p13ALT_REF_LOCI_4Second PassNT_167246.1Chr6|NT_16
7246.1
2,621,5332,621,5332,631,393-
esv3890817Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000006.10Chr631,382,67231,385,96731,394,36031,398,785

Variant Call Information

Variant Call IDTypeMethodAnalysisCopy number
essv25789431copy number gainSNP arrayProbe signal intensity3
essv25789409copy number gainSNP arrayProbe signal intensity3
essv25780263copy number lossSNP arrayProbe signal intensity1
essv25782967copy number lossSNP arrayProbe signal intensity1
essv25783228copy number lossSNP arrayProbe signal intensity1
essv25785430copy number lossSNP arrayProbe signal intensity1
essv25780981copy number lossSNP arrayProbe signal intensity1
essv25781034copy number lossSNP arrayProbe signal intensity1
essv25782676copy number lossSNP arrayProbe signal intensity1
essv25784523copy number lossSNP arrayProbe signal intensity1
essv25785337copy number lossSNP arrayProbe signal intensity1
essv25788428copy number gainSNP arrayProbe signal intensity3
essv25781411copy number lossSNP arrayProbe signal intensity1
essv25781897copy number lossSNP arrayProbe signal intensity1
essv25782163copy number lossSNP arrayProbe signal intensity1
essv25782310copy number lossSNP arrayProbe signal intensity1
essv25782844copy number lossSNP arrayProbe signal intensity1
essv25783364copy number lossSNP arrayProbe signal intensity1
essv25784375copy number lossSNP arrayProbe signal intensity1
essv25784716copy number lossSNP arrayProbe signal intensity1
essv25783536copy number lossSNP arrayProbe signal intensity1
essv25787162copy number lossSNP arrayProbe signal intensity1
essv25798850copy number lossSNP arrayProbe signal intensity1
essv25801215copy number lossSNP arrayProbe signal intensity1
essv25781485copy number lossSNP arrayProbe signal intensity1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
essv25789431RemappedGoodNT_167249.2:g.(?_2
609147)_(2623708_?
)dup
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,609,1472,623,708
essv25789409RemappedGoodNT_167249.2:g.(?_2
609147)_(2625230_?
)dup
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,609,1472,625,230
essv25780263RemappedGoodNT_167249.2:g.(?_2
611057)_(2620794_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,611,0572,620,794
essv25782967RemappedGoodNT_167249.2:g.(?_2
611057)_(2620794_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,611,0572,620,794
essv25783228RemappedGoodNT_167249.2:g.(?_2
611057)_(2620794_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,611,0572,620,794
essv25785430RemappedGoodNT_167249.2:g.(?_2
611057)_(2620794_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,611,0572,620,794
essv25780981RemappedGoodNT_167249.2:g.(?_2
611057)_(2622909_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,611,0572,622,909
essv25781034RemappedGoodNT_167249.2:g.(?_2
611057)_(2622909_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,611,0572,622,909
essv25782676RemappedGoodNT_167249.2:g.(?_2
611057)_(2622909_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,611,0572,622,909
essv25784523RemappedGoodNT_167249.2:g.(?_2
611057)_(2622909_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,611,0572,622,909
essv25785337RemappedGoodNT_167249.2:g.(?_2
611057)_(2622909_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,611,0572,622,909
essv25788428RemappedGoodNT_167249.2:g.(?_2
611057)_(2622909_?
)dup
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,611,0572,622,909
essv25781411RemappedGoodNT_167249.2:g.(?_2
611057)_(2623708_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,611,0572,623,708
essv25781897RemappedGoodNT_167249.2:g.(?_2
611057)_(2623708_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,611,0572,623,708
essv25782163RemappedGoodNT_167249.2:g.(?_2
611057)_(2623708_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,611,0572,623,708
essv25782310RemappedGoodNT_167249.2:g.(?_2
611057)_(2623708_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,611,0572,623,708
essv25782844RemappedGoodNT_167249.2:g.(?_2
611057)_(2623708_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,611,0572,623,708
essv25783364RemappedGoodNT_167249.2:g.(?_2
611057)_(2623708_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,611,0572,623,708
essv25784375RemappedGoodNT_167249.2:g.(?_2
611057)_(2623708_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,611,0572,623,708
essv25784716RemappedGoodNT_167249.2:g.(?_2
611057)_(2623708_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,611,0572,623,708
essv25783536RemappedGoodNT_167249.2:g.(?_2
611057)_(2625230_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,611,0572,625,230
essv25787162RemappedGoodNT_167249.2:g.(?_2
612180)_(2620794_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,612,1802,620,794
essv25798850RemappedGoodNT_167249.2:g.(?_2
612428)_(2622909_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,612,4282,622,909
essv25801215RemappedGoodNT_167249.2:g.(?_2
612428)_(2622909_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,612,4282,622,909
essv25781485RemappedGoodNT_167249.2:g.(?_2
612428)_(2623708_?
)del
GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2
2,612,4282,623,708
essv25789409RemappedPassNT_167246.2:g.(?_2
615913)_(2625775_?
)dup
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,615,9132,625,775
essv25789431RemappedPassNT_167246.2:g.(?_2
615913)_(2625775_?
)dup
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,615,9132,625,775
essv25780263RemappedPassNT_167246.2:g.(?_2
617816)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,617,8162,625,775
essv25780981RemappedPassNT_167246.2:g.(?_2
617816)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,617,8162,625,775
essv25781034RemappedPassNT_167246.2:g.(?_2
617816)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,617,8162,625,775
essv25781411RemappedPassNT_167246.2:g.(?_2
617816)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,617,8162,625,775
essv25781897RemappedPassNT_167246.2:g.(?_2
617816)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,617,8162,625,775
essv25782163RemappedPassNT_167246.2:g.(?_2
617816)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,617,8162,625,775
essv25782310RemappedPassNT_167246.2:g.(?_2
617816)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,617,8162,625,775
essv25782676RemappedPassNT_167246.2:g.(?_2
617816)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,617,8162,625,775
essv25782844RemappedPassNT_167246.2:g.(?_2
617816)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,617,8162,625,775
essv25782967RemappedPassNT_167246.2:g.(?_2
617816)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,617,8162,625,775
essv25783228RemappedPassNT_167246.2:g.(?_2
617816)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,617,8162,625,775
essv25783364RemappedPassNT_167246.2:g.(?_2
617816)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,617,8162,625,775
essv25783536RemappedPassNT_167246.2:g.(?_2
617816)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,617,8162,625,775
essv25784375RemappedPassNT_167246.2:g.(?_2
617816)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,617,8162,625,775
essv25784523RemappedPassNT_167246.2:g.(?_2
617816)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,617,8162,625,775
essv25784716RemappedPassNT_167246.2:g.(?_2
617816)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,617,8162,625,775
essv25785337RemappedPassNT_167246.2:g.(?_2
617816)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,617,8162,625,775
essv25785430RemappedPassNT_167246.2:g.(?_2
617816)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,617,8162,625,775
essv25788428RemappedPassNT_167246.2:g.(?_2
617816)_(2625775_?
)dup
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,617,8162,625,775
essv25787162RemappedPassNT_167246.2:g.(?_2
618946)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,618,9462,625,775
essv25781485RemappedPassNT_167246.2:g.(?_2
619194)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,619,1942,625,775
essv25798850RemappedPassNT_167246.2:g.(?_2
619194)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,619,1942,625,775
essv25801215RemappedPassNT_167246.2:g.(?_2
619194)_(2625775_?
)del
GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2
2,619,1942,625,775
essv25789431RemappedPerfectNC_000006.12:g.(?_
31306916)_(3132150
7_?)dup
GRCh38.p12First PassNC_000006.12Chr631,306,91631,321,507
essv25789409RemappedPerfectNC_000006.12:g.(?_
31306916)_(3132302
9_?)dup
GRCh38.p12First PassNC_000006.12Chr631,306,91631,323,029
essv25780263RemappedPerfectNC_000006.12:g.(?_
31308833)_(3131860
4_?)del
GRCh38.p12First PassNC_000006.12Chr631,308,83331,318,604
essv25782967RemappedPerfectNC_000006.12:g.(?_
31308833)_(3131860
4_?)del
GRCh38.p12First PassNC_000006.12Chr631,308,83331,318,604
essv25783228RemappedPerfectNC_000006.12:g.(?_
31308833)_(3131860
4_?)del
GRCh38.p12First PassNC_000006.12Chr631,308,83331,318,604
essv25785430RemappedPerfectNC_000006.12:g.(?_
31308833)_(3131860
4_?)del
GRCh38.p12First PassNC_000006.12Chr631,308,83331,318,604
essv25780981RemappedPerfectNC_000006.12:g.(?_
31308833)_(3132071
6_?)del
GRCh38.p12First PassNC_000006.12Chr631,308,83331,320,716
essv25781034RemappedPerfectNC_000006.12:g.(?_
31308833)_(3132071
6_?)del
GRCh38.p12First PassNC_000006.12Chr631,308,83331,320,716
essv25782676RemappedPerfectNC_000006.12:g.(?_
31308833)_(3132071
6_?)del
GRCh38.p12First PassNC_000006.12Chr631,308,83331,320,716
essv25784523RemappedPerfectNC_000006.12:g.(?_
31308833)_(3132071
6_?)del
GRCh38.p12First PassNC_000006.12Chr631,308,83331,320,716
essv25785337RemappedPerfectNC_000006.12:g.(?_
31308833)_(3132071
6_?)del
GRCh38.p12First PassNC_000006.12Chr631,308,83331,320,716
essv25788428RemappedPerfectNC_000006.12:g.(?_
31308833)_(3132071
6_?)dup
GRCh38.p12First PassNC_000006.12Chr631,308,83331,320,716
essv25781411RemappedPerfectNC_000006.12:g.(?_
31308833)_(3132150
7_?)del
GRCh38.p12First PassNC_000006.12Chr631,308,83331,321,507
essv25781897RemappedPerfectNC_000006.12:g.(?_
31308833)_(3132150
7_?)del
GRCh38.p12First PassNC_000006.12Chr631,308,83331,321,507
essv25782163RemappedPerfectNC_000006.12:g.(?_
31308833)_(3132150
7_?)del
GRCh38.p12First PassNC_000006.12Chr631,308,83331,321,507
essv25782310RemappedPerfectNC_000006.12:g.(?_
31308833)_(3132150
7_?)del
GRCh38.p12First PassNC_000006.12Chr631,308,83331,321,507
essv25782844RemappedPerfectNC_000006.12:g.(?_
31308833)_(3132150
7_?)del
GRCh38.p12First PassNC_000006.12Chr631,308,83331,321,507
essv25783364RemappedPerfectNC_000006.12:g.(?_
31308833)_(3132150
7_?)del
GRCh38.p12First PassNC_000006.12Chr631,308,83331,321,507
essv25784375RemappedPerfectNC_000006.12:g.(?_
31308833)_(3132150
7_?)del
GRCh38.p12First PassNC_000006.12Chr631,308,83331,321,507
essv25784716RemappedPerfectNC_000006.12:g.(?_
31308833)_(3132150
7_?)del
GRCh38.p12First PassNC_000006.12Chr631,308,83331,321,507
essv25783536RemappedPerfectNC_000006.12:g.(?_
31308833)_(3132302
9_?)del
GRCh38.p12First PassNC_000006.12Chr631,308,83331,323,029
essv25787162RemappedPerfectNC_000006.12:g.(?_
31309963)_(3131860
4_?)del
GRCh38.p12First PassNC_000006.12Chr631,309,96331,318,604
essv25798850RemappedPerfectNC_000006.12:g.(?_
31310211)_(3132071
6_?)del
GRCh38.p12First PassNC_000006.12Chr631,310,21131,320,716
essv25801215RemappedPerfectNC_000006.12:g.(?_
31310211)_(3132071
6_?)del
GRCh38.p12First PassNC_000006.12Chr631,310,21131,320,716
essv25781485RemappedPerfectNC_000006.12:g.(?_
31310211)_(3132150
7_?)del
GRCh38.p12First PassNC_000006.12Chr631,310,21131,321,507
essv25789431RemappedGoodNT_167249.1:g.(?_2
608445)_(2623006_?
)dup
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,608,4452,623,006
essv25789409RemappedGoodNT_167249.1:g.(?_2
608445)_(2624528_?
)dup
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,608,4452,624,528
essv25780263RemappedGoodNT_167249.1:g.(?_2
610355)_(2620092_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,610,3552,620,092
essv25782967RemappedGoodNT_167249.1:g.(?_2
610355)_(2620092_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,610,3552,620,092
essv25783228RemappedGoodNT_167249.1:g.(?_2
610355)_(2620092_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,610,3552,620,092
essv25785430RemappedGoodNT_167249.1:g.(?_2
610355)_(2620092_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,610,3552,620,092
essv25780981RemappedGoodNT_167249.1:g.(?_2
610355)_(2622207_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,610,3552,622,207
essv25781034RemappedGoodNT_167249.1:g.(?_2
610355)_(2622207_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,610,3552,622,207
essv25782676RemappedGoodNT_167249.1:g.(?_2
610355)_(2622207_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,610,3552,622,207
essv25784523RemappedGoodNT_167249.1:g.(?_2
610355)_(2622207_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,610,3552,622,207
essv25785337RemappedGoodNT_167249.1:g.(?_2
610355)_(2622207_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,610,3552,622,207
essv25788428RemappedGoodNT_167249.1:g.(?_2
610355)_(2622207_?
)dup
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,610,3552,622,207
essv25781411RemappedGoodNT_167249.1:g.(?_2
610355)_(2623006_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,610,3552,623,006
essv25781897RemappedGoodNT_167249.1:g.(?_2
610355)_(2623006_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,610,3552,623,006
essv25782163RemappedGoodNT_167249.1:g.(?_2
610355)_(2623006_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,610,3552,623,006
essv25782310RemappedGoodNT_167249.1:g.(?_2
610355)_(2623006_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,610,3552,623,006
essv25782844RemappedGoodNT_167249.1:g.(?_2
610355)_(2623006_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,610,3552,623,006
essv25783364RemappedGoodNT_167249.1:g.(?_2
610355)_(2623006_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,610,3552,623,006
essv25784375RemappedGoodNT_167249.1:g.(?_2
610355)_(2623006_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,610,3552,623,006
essv25784716RemappedGoodNT_167249.1:g.(?_2
610355)_(2623006_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,610,3552,623,006
essv25783536RemappedGoodNT_167249.1:g.(?_2
610355)_(2624528_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,610,3552,624,528
essv25787162RemappedGoodNT_167249.1:g.(?_2
611478)_(2620092_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,611,4782,620,092
essv25798850RemappedGoodNT_167249.1:g.(?_2
611726)_(2622207_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,611,7262,622,207
essv25801215RemappedGoodNT_167249.1:g.(?_2
611726)_(2622207_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,611,7262,622,207
essv25781485RemappedGoodNT_167249.1:g.(?_2
611726)_(2623006_?
)del
GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1
2,611,7262,623,006
Showing 100 of 175

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

Support Center