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esv3310609

  • Variant Calls:22
  • Validation:Yes
  • Clinical Assertions: No
  • Region Size:16,474

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 105 SVs from 35 studies. See in: genome view    
Remapped(Score: Perfect):50,948,870-50,965,371Question Mark
Overlapping variant regions from other studies: 105 SVs from 35 studies. See in: genome view    
Remapped(Score: Perfect):51,415,588-51,432,089Question Mark
Overlapping variant regions from other studies: 23 SVs from 9 studies. See in: genome view    
Submitted genomic50,485,338-50,501,839Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
esv3310609RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
esv3310609RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
esv3310609Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisOther Calls in this Sample and Study
essv7742015deletionSAMN00001564SequencingSplit read mapping9,310
essv7742025deletionSAMN00001618SequencingSplit read mapping9,893
essv7742035deletionSAMN00801704SequencingSplit read mapping16,979
essv7742045deletionSAMN00001556SequencingSplit read mapping17,127
essv7742055deletionSAMN00001546SequencingSplit read mapping15,275
essv7742065deletionSAMN00797406SequencingSplit read mapping9,724
essv7742076deletionSAMN00001606SequencingSplit read mapping15,404
essv7742086deletionSAMN00001644SequencingSplit read mapping14,069
essv7742097deletionSAMN00001615SequencingSplit read mapping9,351
essv7742107deletionSAMN00801241SequencingSplit read mapping14,163
essv7742117deletionSAMN00001666SequencingSplit read mapping11,359
essv7742127deletionSAMN00001581SequencingSplit read mapping12,254
essv7742137deletionSAMN00001597SequencingSplit read mapping14,192
essv7742147deletionSAMN00801053SequencingSplit read mapping3,233
essv7742157deletionSAMN00001593SequencingSplit read mapping15,444
essv7742167deletionSAMN00001605SequencingSplit read mapping14,569
essv7742177deletionSAMN00801099SequencingSplit read mapping14,647
essv7742188deletionSAMN00001649SequencingSplit read mapping13,082
essv7742201deletionSAMN00001696SequencingSplit read mapping44,056
essv7742211deletionSAMN00001662SequencingSplit read mapping12,316
essv7742221deletionSAMN00800835SequencingSplit read mapping10,547
essv7742231deletionSAMN00001639SequencingSplit read mapping14,223

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
essv7742015RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742025RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742035RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742045RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742055RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742065RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742076RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742086RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742097RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742107RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742117RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742127RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742137RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742147RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742157RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742167RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742177RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742188RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742201RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742211RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742221RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742231RemappedPerfectNC_000014.9:g.(509
48870_50948898)_(5
0965344_50965371)d
el
GRCh38.p12First PassNC_000014.9Chr1450,948,888 (-18, +10)50,965,361 (-17, +10)
essv7742015RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742025RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742035RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742045RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742055RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742065RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742076RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742086RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742097RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742107RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742117RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742127RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742137RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742147RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742157RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742167RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742177RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742188RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742201RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742211RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742221RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742231RemappedPerfectNC_000014.8:g.(514
15588_51415616)_(5
1432062_51432089)d
el
GRCh37.p13First PassNC_000014.8Chr1451,415,606 (-18, +10)51,432,079 (-17, +10)
essv7742015Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)
essv7742025Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)
essv7742035Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)
essv7742045Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)
essv7742055Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)
essv7742065Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)
essv7742076Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)
essv7742086Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)
essv7742097Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)
essv7742107Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)
essv7742117Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)
essv7742127Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)
essv7742137Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)
essv7742147Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)
essv7742157Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)
essv7742167Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)
essv7742177Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)
essv7742188Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)
essv7742201Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)
essv7742211Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)
essv7742221Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)
essv7742231Submitted genomicNC_000014.7:g.(504
85338_50485366)_(5
0501812_50501839)d
el
NCBI36 (hg18)NC_000014.7Chr1450,485,356 (-18, +10)50,501,829 (-17, +10)

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
essv774205536SAMN00001546Digital arrayOtherFail
essv774205538SAMN00001546Digital arrayOtherFail
essv774204536SAMN00001556Digital arrayOtherFail
essv774204538SAMN00001556Digital arrayOtherFail
essv774201536SAMN00001564Digital arrayOtherFail
essv774201538SAMN00001564Digital arrayOtherFail
essv774212736SAMN00001581Digital arrayOtherFail
essv774212738SAMN00001581Digital arrayOtherFail
essv774215736SAMN00001593Digital arrayOtherFail
essv774215738SAMN00001593Digital arrayOtherFail
essv774213736SAMN00001597Digital arrayOtherFail
essv774213738SAMN00001597Digital arrayOtherFail
essv774216736SAMN00001605Digital arrayOtherFail
essv774216738SAMN00001605Digital arrayOtherFail
essv774207636SAMN00001606Digital arrayOtherFail
essv774207638SAMN00001606Digital arrayOtherFail
essv774209736SAMN00001615Digital arrayOtherFail
essv774209738SAMN00001615Digital arrayOtherFail
essv774202536SAMN00001618Digital arrayOtherFail
essv774202538SAMN00001618Digital arrayOtherFail
essv774223136SAMN00001639Digital arrayOtherFail
essv774223138SAMN00001639Digital arrayOtherFail
essv774208636SAMN00001644Digital arrayOtherFail
essv774208638SAMN00001644Digital arrayOtherFail
essv774218836SAMN00001649Digital arrayOtherFail
essv774218838SAMN00001649Digital arrayOtherFail
essv774221136SAMN00001662Digital arrayOtherFail
essv774221138SAMN00001662Digital arrayOtherFail
essv774211736SAMN00001666Digital arrayOtherFail
essv774211738SAMN00001666Digital arrayOtherFail
essv774220136SAMN00001696Digital arrayOtherFail
essv774220138SAMN00001696Digital arrayOtherFail
essv774206536SAMN00797406Digital arrayOtherFail
essv774206538SAMN00797406Digital arrayOtherFail
essv774222136SAMN00800835Digital arrayOtherFail
essv774222138SAMN00800835Digital arrayOtherFail
essv774214736SAMN00801053Digital arrayOtherFail
essv774214738SAMN00801053Digital arrayOtherFail
essv774217736SAMN00801099Digital arrayOtherFail
essv774217738SAMN00801099Digital arrayOtherFail
essv774210736SAMN00801241Digital arrayOtherFail
essv774210738SAMN00801241Digital arrayOtherFail
essv774203536SAMN00801704Digital arrayOtherFail
essv774203538SAMN00801704Digital arrayOtherFail
essv774205537SAMN00001546Sequencingde novo sequence assemblyPass
essv774204537SAMN00001556Sequencingde novo sequence assemblyPass
essv774201537SAMN00001564Sequencingde novo sequence assemblyPass
essv774212737SAMN00001581Sequencingde novo sequence assemblyPass
essv774215737SAMN00001593Sequencingde novo sequence assemblyPass
essv774213737SAMN00001597Sequencingde novo sequence assemblyPass
essv774216737SAMN00001605Sequencingde novo sequence assemblyPass
essv774207637SAMN00001606Sequencingde novo sequence assemblyPass
essv774209737SAMN00001615Sequencingde novo sequence assemblyPass
essv774202537SAMN00001618Sequencingde novo sequence assemblyPass
essv774223137SAMN00001639Sequencingde novo sequence assemblyPass
essv774208637SAMN00001644Sequencingde novo sequence assemblyPass
essv774218837SAMN00001649Sequencingde novo sequence assemblyPass
essv774221137SAMN00001662Sequencingde novo sequence assemblyPass
essv774211737SAMN00001666Sequencingde novo sequence assemblyPass
essv774220137SAMN00001696Sequencingde novo sequence assemblyPass
essv774206537SAMN00797406Sequencingde novo sequence assemblyPass
essv774222137SAMN00800835Sequencingde novo sequence assemblyPass
essv774214737SAMN00801053Sequencingde novo sequence assemblyPass
essv774217737SAMN00801099Sequencingde novo sequence assemblyPass
essv774210737SAMN00801241Sequencingde novo sequence assemblyPass
essv774203537SAMN00801704Sequencingde novo sequence assemblyPass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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