U.S. flag

An official website of the United States government

esv3312706

  • Variant Calls:17
  • Validation:Yes
  • Clinical Assertions: No
  • Region Size:67,082

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 315 SVs from 66 studies. See in: genome view    
Remapped(Score: Perfect):22,008,345-22,075,522Question Mark
Overlapping variant regions from other studies: 184 SVs from 42 studies. See in: genome view    
Remapped(Score: Perfect):1,029,476-1,096,653Question Mark
Overlapping variant regions from other studies: 315 SVs from 66 studies. See in: genome view    
Remapped(Score: Perfect):22,019,666-22,086,843Question Mark
Overlapping variant regions from other studies: 130 SVs from 22 studies. See in: genome view    
Submitted genomic21,927,167-21,994,344Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
esv3312706RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000016.10Chr1622,008,413 (-68, +45)22,075,494 (-67, +28)
esv3312706RemappedPerfectGRCh38.p12PATCHESSecond PassNW_017852933.1Chr16|NW_0
17852933.1
1,029,544 (-68, +45)1,096,625 (-67, +28)
esv3312706RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000016.9Chr1622,019,734 (-68, +45)22,086,815 (-67, +28)
esv3312706Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000016.8Chr1621,927,235 (-68, +45)21,994,316 (-67, +28)

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisOther Calls in this Sample and Study
essv8874196deletionSAMN00001627SequencingPaired-end mapping11,565
essv8874197deletionSAMN00001645SequencingPaired-end mapping13,185
essv8874198deletionSAMN00801237SequencingPaired-end mapping9,493
essv8874199deletionSAMN00797054SequencingPaired-end mapping11,153
essv8874200deletionSAMN00001593SequencingPaired-end mapping15,444
essv8874201deletionSAMN00001624SequencingPaired-end mapping10,264
essv8874203deletionSAMN00001585SequencingPaired-end mapping11,247
essv8874204deletionSAMN00001579SequencingPaired-end mapping10,322
essv8874205deletionSAMN00001626SequencingPaired-end mapping11,564
essv8874206deletionSAMN00001625SequencingPaired-end mapping10,737
essv8874207deletionSAMN00001589SequencingPaired-end mapping10,468
essv8874208deletionSAMN00001636SequencingPaired-end mapping14,366
essv8874209deletionSAMN00797154SequencingPaired-end mapping12,042
essv8874210deletionSAMN00001592SequencingPaired-end mapping12,716
essv8874211deletionSAMN00001634SequencingPaired-end mapping14,025
essv8874212deletionSAMN00001667SequencingPaired-end mapping12,201
essv8874214deletionSAMN00001632SequencingPaired-end mapping10,836

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
essv8874196RemappedPerfectNW_017852933.1:g.(
1029476_1029589)_(
1096558_1096653)de
l
GRCh38.p12Second PassNW_017852933.1Chr16|NW_0
17852933.1
1,029,544 (-68, +45)1,096,625 (-67, +28)
essv8874197RemappedPerfectNW_017852933.1:g.(
1029476_1029589)_(
1096558_1096653)de
l
GRCh38.p12Second PassNW_017852933.1Chr16|NW_0
17852933.1
1,029,544 (-68, +45)1,096,625 (-67, +28)
essv8874198RemappedPerfectNW_017852933.1:g.(
1029476_1029589)_(
1096558_1096653)de
l
GRCh38.p12Second PassNW_017852933.1Chr16|NW_0
17852933.1
1,029,544 (-68, +45)1,096,625 (-67, +28)
essv8874199RemappedPerfectNW_017852933.1:g.(
1029476_1029589)_(
1096558_1096653)de
l
GRCh38.p12Second PassNW_017852933.1Chr16|NW_0
17852933.1
1,029,544 (-68, +45)1,096,625 (-67, +28)
essv8874200RemappedPerfectNW_017852933.1:g.(
1029476_1029589)_(
1096558_1096653)de
l
GRCh38.p12Second PassNW_017852933.1Chr16|NW_0
17852933.1
1,029,544 (-68, +45)1,096,625 (-67, +28)
essv8874201RemappedPerfectNW_017852933.1:g.(
1029476_1029589)_(
1096558_1096653)de
l
GRCh38.p12Second PassNW_017852933.1Chr16|NW_0
17852933.1
1,029,544 (-68, +45)1,096,625 (-67, +28)
essv8874203RemappedPerfectNW_017852933.1:g.(
1029476_1029589)_(
1096558_1096653)de
l
GRCh38.p12Second PassNW_017852933.1Chr16|NW_0
17852933.1
1,029,544 (-68, +45)1,096,625 (-67, +28)
essv8874204RemappedPerfectNW_017852933.1:g.(
1029476_1029589)_(
1096558_1096653)de
l
GRCh38.p12Second PassNW_017852933.1Chr16|NW_0
17852933.1
1,029,544 (-68, +45)1,096,625 (-67, +28)
essv8874205RemappedPerfectNW_017852933.1:g.(
1029476_1029589)_(
1096558_1096653)de
l
GRCh38.p12Second PassNW_017852933.1Chr16|NW_0
17852933.1
1,029,544 (-68, +45)1,096,625 (-67, +28)
essv8874206RemappedPerfectNW_017852933.1:g.(
1029476_1029589)_(
1096558_1096653)de
l
GRCh38.p12Second PassNW_017852933.1Chr16|NW_0
17852933.1
1,029,544 (-68, +45)1,096,625 (-67, +28)
essv8874207RemappedPerfectNW_017852933.1:g.(
1029476_1029589)_(
1096558_1096653)de
l
GRCh38.p12Second PassNW_017852933.1Chr16|NW_0
17852933.1
1,029,544 (-68, +45)1,096,625 (-67, +28)
essv8874208RemappedPerfectNW_017852933.1:g.(
1029476_1029589)_(
1096558_1096653)de
l
GRCh38.p12Second PassNW_017852933.1Chr16|NW_0
17852933.1
1,029,544 (-68, +45)1,096,625 (-67, +28)
essv8874209RemappedPerfectNW_017852933.1:g.(
1029476_1029589)_(
1096558_1096653)de
l
GRCh38.p12Second PassNW_017852933.1Chr16|NW_0
17852933.1
1,029,544 (-68, +45)1,096,625 (-67, +28)
essv8874210RemappedPerfectNW_017852933.1:g.(
1029476_1029589)_(
1096558_1096653)de
l
GRCh38.p12Second PassNW_017852933.1Chr16|NW_0
17852933.1
1,029,544 (-68, +45)1,096,625 (-67, +28)
essv8874211RemappedPerfectNW_017852933.1:g.(
1029476_1029589)_(
1096558_1096653)de
l
GRCh38.p12Second PassNW_017852933.1Chr16|NW_0
17852933.1
1,029,544 (-68, +45)1,096,625 (-67, +28)
essv8874212RemappedPerfectNW_017852933.1:g.(
1029476_1029589)_(
1096558_1096653)de
l
GRCh38.p12Second PassNW_017852933.1Chr16|NW_0
17852933.1
1,029,544 (-68, +45)1,096,625 (-67, +28)
essv8874214RemappedPerfectNW_017852933.1:g.(
1029476_1029589)_(
1096558_1096653)de
l
GRCh38.p12Second PassNW_017852933.1Chr16|NW_0
17852933.1
1,029,544 (-68, +45)1,096,625 (-67, +28)
essv8874196RemappedPerfectNC_000016.10:g.(22
008345_22008458)_(
22075427_22075522)
del
GRCh38.p12First PassNC_000016.10Chr1622,008,413 (-68, +45)22,075,494 (-67, +28)
essv8874197RemappedPerfectNC_000016.10:g.(22
008345_22008458)_(
22075427_22075522)
del
GRCh38.p12First PassNC_000016.10Chr1622,008,413 (-68, +45)22,075,494 (-67, +28)
essv8874198RemappedPerfectNC_000016.10:g.(22
008345_22008458)_(
22075427_22075522)
del
GRCh38.p12First PassNC_000016.10Chr1622,008,413 (-68, +45)22,075,494 (-67, +28)
essv8874199RemappedPerfectNC_000016.10:g.(22
008345_22008458)_(
22075427_22075522)
del
GRCh38.p12First PassNC_000016.10Chr1622,008,413 (-68, +45)22,075,494 (-67, +28)
essv8874200RemappedPerfectNC_000016.10:g.(22
008345_22008458)_(
22075427_22075522)
del
GRCh38.p12First PassNC_000016.10Chr1622,008,413 (-68, +45)22,075,494 (-67, +28)
essv8874201RemappedPerfectNC_000016.10:g.(22
008345_22008458)_(
22075427_22075522)
del
GRCh38.p12First PassNC_000016.10Chr1622,008,413 (-68, +45)22,075,494 (-67, +28)
essv8874203RemappedPerfectNC_000016.10:g.(22
008345_22008458)_(
22075427_22075522)
del
GRCh38.p12First PassNC_000016.10Chr1622,008,413 (-68, +45)22,075,494 (-67, +28)
essv8874204RemappedPerfectNC_000016.10:g.(22
008345_22008458)_(
22075427_22075522)
del
GRCh38.p12First PassNC_000016.10Chr1622,008,413 (-68, +45)22,075,494 (-67, +28)
essv8874205RemappedPerfectNC_000016.10:g.(22
008345_22008458)_(
22075427_22075522)
del
GRCh38.p12First PassNC_000016.10Chr1622,008,413 (-68, +45)22,075,494 (-67, +28)
essv8874206RemappedPerfectNC_000016.10:g.(22
008345_22008458)_(
22075427_22075522)
del
GRCh38.p12First PassNC_000016.10Chr1622,008,413 (-68, +45)22,075,494 (-67, +28)
essv8874207RemappedPerfectNC_000016.10:g.(22
008345_22008458)_(
22075427_22075522)
del
GRCh38.p12First PassNC_000016.10Chr1622,008,413 (-68, +45)22,075,494 (-67, +28)
essv8874208RemappedPerfectNC_000016.10:g.(22
008345_22008458)_(
22075427_22075522)
del
GRCh38.p12First PassNC_000016.10Chr1622,008,413 (-68, +45)22,075,494 (-67, +28)
essv8874209RemappedPerfectNC_000016.10:g.(22
008345_22008458)_(
22075427_22075522)
del
GRCh38.p12First PassNC_000016.10Chr1622,008,413 (-68, +45)22,075,494 (-67, +28)
essv8874210RemappedPerfectNC_000016.10:g.(22
008345_22008458)_(
22075427_22075522)
del
GRCh38.p12First PassNC_000016.10Chr1622,008,413 (-68, +45)22,075,494 (-67, +28)
essv8874211RemappedPerfectNC_000016.10:g.(22
008345_22008458)_(
22075427_22075522)
del
GRCh38.p12First PassNC_000016.10Chr1622,008,413 (-68, +45)22,075,494 (-67, +28)
essv8874212RemappedPerfectNC_000016.10:g.(22
008345_22008458)_(
22075427_22075522)
del
GRCh38.p12First PassNC_000016.10Chr1622,008,413 (-68, +45)22,075,494 (-67, +28)
essv8874214RemappedPerfectNC_000016.10:g.(22
008345_22008458)_(
22075427_22075522)
del
GRCh38.p12First PassNC_000016.10Chr1622,008,413 (-68, +45)22,075,494 (-67, +28)
essv8874196RemappedPerfectNC_000016.9:g.(220
19666_22019779)_(2
2086748_22086843)d
el
GRCh37.p13First PassNC_000016.9Chr1622,019,734 (-68, +45)22,086,815 (-67, +28)
essv8874197RemappedPerfectNC_000016.9:g.(220
19666_22019779)_(2
2086748_22086843)d
el
GRCh37.p13First PassNC_000016.9Chr1622,019,734 (-68, +45)22,086,815 (-67, +28)
essv8874198RemappedPerfectNC_000016.9:g.(220
19666_22019779)_(2
2086748_22086843)d
el
GRCh37.p13First PassNC_000016.9Chr1622,019,734 (-68, +45)22,086,815 (-67, +28)
essv8874199RemappedPerfectNC_000016.9:g.(220
19666_22019779)_(2
2086748_22086843)d
el
GRCh37.p13First PassNC_000016.9Chr1622,019,734 (-68, +45)22,086,815 (-67, +28)
essv8874200RemappedPerfectNC_000016.9:g.(220
19666_22019779)_(2
2086748_22086843)d
el
GRCh37.p13First PassNC_000016.9Chr1622,019,734 (-68, +45)22,086,815 (-67, +28)
essv8874201RemappedPerfectNC_000016.9:g.(220
19666_22019779)_(2
2086748_22086843)d
el
GRCh37.p13First PassNC_000016.9Chr1622,019,734 (-68, +45)22,086,815 (-67, +28)
essv8874203RemappedPerfectNC_000016.9:g.(220
19666_22019779)_(2
2086748_22086843)d
el
GRCh37.p13First PassNC_000016.9Chr1622,019,734 (-68, +45)22,086,815 (-67, +28)
essv8874204RemappedPerfectNC_000016.9:g.(220
19666_22019779)_(2
2086748_22086843)d
el
GRCh37.p13First PassNC_000016.9Chr1622,019,734 (-68, +45)22,086,815 (-67, +28)
essv8874205RemappedPerfectNC_000016.9:g.(220
19666_22019779)_(2
2086748_22086843)d
el
GRCh37.p13First PassNC_000016.9Chr1622,019,734 (-68, +45)22,086,815 (-67, +28)
essv8874206RemappedPerfectNC_000016.9:g.(220
19666_22019779)_(2
2086748_22086843)d
el
GRCh37.p13First PassNC_000016.9Chr1622,019,734 (-68, +45)22,086,815 (-67, +28)
essv8874207RemappedPerfectNC_000016.9:g.(220
19666_22019779)_(2
2086748_22086843)d
el
GRCh37.p13First PassNC_000016.9Chr1622,019,734 (-68, +45)22,086,815 (-67, +28)
essv8874208RemappedPerfectNC_000016.9:g.(220
19666_22019779)_(2
2086748_22086843)d
el
GRCh37.p13First PassNC_000016.9Chr1622,019,734 (-68, +45)22,086,815 (-67, +28)
essv8874209RemappedPerfectNC_000016.9:g.(220
19666_22019779)_(2
2086748_22086843)d
el
GRCh37.p13First PassNC_000016.9Chr1622,019,734 (-68, +45)22,086,815 (-67, +28)
essv8874210RemappedPerfectNC_000016.9:g.(220
19666_22019779)_(2
2086748_22086843)d
el
GRCh37.p13First PassNC_000016.9Chr1622,019,734 (-68, +45)22,086,815 (-67, +28)
essv8874211RemappedPerfectNC_000016.9:g.(220
19666_22019779)_(2
2086748_22086843)d
el
GRCh37.p13First PassNC_000016.9Chr1622,019,734 (-68, +45)22,086,815 (-67, +28)
essv8874212RemappedPerfectNC_000016.9:g.(220
19666_22019779)_(2
2086748_22086843)d
el
GRCh37.p13First PassNC_000016.9Chr1622,019,734 (-68, +45)22,086,815 (-67, +28)
essv8874214RemappedPerfectNC_000016.9:g.(220
19666_22019779)_(2
2086748_22086843)d
el
GRCh37.p13First PassNC_000016.9Chr1622,019,734 (-68, +45)22,086,815 (-67, +28)
essv8874196Submitted genomicNC_000016.8:g.(219
27167_21927280)_(2
1994249_21994344)d
el
NCBI36 (hg18)NC_000016.8Chr1621,927,235 (-68, +45)21,994,316 (-67, +28)
essv8874197Submitted genomicNC_000016.8:g.(219
27167_21927280)_(2
1994249_21994344)d
el
NCBI36 (hg18)NC_000016.8Chr1621,927,235 (-68, +45)21,994,316 (-67, +28)
essv8874198Submitted genomicNC_000016.8:g.(219
27167_21927280)_(2
1994249_21994344)d
el
NCBI36 (hg18)NC_000016.8Chr1621,927,235 (-68, +45)21,994,316 (-67, +28)
essv8874199Submitted genomicNC_000016.8:g.(219
27167_21927280)_(2
1994249_21994344)d
el
NCBI36 (hg18)NC_000016.8Chr1621,927,235 (-68, +45)21,994,316 (-67, +28)
essv8874200Submitted genomicNC_000016.8:g.(219
27167_21927280)_(2
1994249_21994344)d
el
NCBI36 (hg18)NC_000016.8Chr1621,927,235 (-68, +45)21,994,316 (-67, +28)
essv8874201Submitted genomicNC_000016.8:g.(219
27167_21927280)_(2
1994249_21994344)d
el
NCBI36 (hg18)NC_000016.8Chr1621,927,235 (-68, +45)21,994,316 (-67, +28)
essv8874203Submitted genomicNC_000016.8:g.(219
27167_21927280)_(2
1994249_21994344)d
el
NCBI36 (hg18)NC_000016.8Chr1621,927,235 (-68, +45)21,994,316 (-67, +28)
essv8874204Submitted genomicNC_000016.8:g.(219
27167_21927280)_(2
1994249_21994344)d
el
NCBI36 (hg18)NC_000016.8Chr1621,927,235 (-68, +45)21,994,316 (-67, +28)
essv8874205Submitted genomicNC_000016.8:g.(219
27167_21927280)_(2
1994249_21994344)d
el
NCBI36 (hg18)NC_000016.8Chr1621,927,235 (-68, +45)21,994,316 (-67, +28)
essv8874206Submitted genomicNC_000016.8:g.(219
27167_21927280)_(2
1994249_21994344)d
el
NCBI36 (hg18)NC_000016.8Chr1621,927,235 (-68, +45)21,994,316 (-67, +28)
essv8874207Submitted genomicNC_000016.8:g.(219
27167_21927280)_(2
1994249_21994344)d
el
NCBI36 (hg18)NC_000016.8Chr1621,927,235 (-68, +45)21,994,316 (-67, +28)
essv8874208Submitted genomicNC_000016.8:g.(219
27167_21927280)_(2
1994249_21994344)d
el
NCBI36 (hg18)NC_000016.8Chr1621,927,235 (-68, +45)21,994,316 (-67, +28)
essv8874209Submitted genomicNC_000016.8:g.(219
27167_21927280)_(2
1994249_21994344)d
el
NCBI36 (hg18)NC_000016.8Chr1621,927,235 (-68, +45)21,994,316 (-67, +28)
essv8874210Submitted genomicNC_000016.8:g.(219
27167_21927280)_(2
1994249_21994344)d
el
NCBI36 (hg18)NC_000016.8Chr1621,927,235 (-68, +45)21,994,316 (-67, +28)
essv8874211Submitted genomicNC_000016.8:g.(219
27167_21927280)_(2
1994249_21994344)d
el
NCBI36 (hg18)NC_000016.8Chr1621,927,235 (-68, +45)21,994,316 (-67, +28)
essv8874212Submitted genomicNC_000016.8:g.(219
27167_21927280)_(2
1994249_21994344)d
el
NCBI36 (hg18)NC_000016.8Chr1621,927,235 (-68, +45)21,994,316 (-67, +28)
essv8874214Submitted genomicNC_000016.8:g.(219
27167_21927280)_(2
1994249_21994344)d
el
NCBI36 (hg18)NC_000016.8Chr1621,927,235 (-68, +45)21,994,316 (-67, +28)

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
essv887420436SAMN00001579Digital arrayOtherFail
essv887420438SAMN00001579Digital arrayOtherFail
essv887420336SAMN00001585Digital arrayOtherFail
essv887420338SAMN00001585Digital arrayOtherFail
essv887420736SAMN00001589Digital arrayOtherFail
essv887420738SAMN00001589Digital arrayOtherFail
essv887421036SAMN00001592Digital arrayOtherFail
essv887421038SAMN00001592Digital arrayOtherFail
essv887420036SAMN00001593Digital arrayOtherFail
essv887420038SAMN00001593Digital arrayOtherFail
essv887420136SAMN00001624Digital arrayOtherFail
essv887420138SAMN00001624Digital arrayOtherFail
essv887420636SAMN00001625Digital arrayOtherFail
essv887420638SAMN00001625Digital arrayOtherFail
essv887420536SAMN00001626Digital arrayOtherFail
essv887420538SAMN00001626Digital arrayOtherFail
essv887419636SAMN00001627Digital arrayOtherFail
essv887419638SAMN00001627Digital arrayOtherFail
essv887421436SAMN00001632Digital arrayOtherFail
essv887421438SAMN00001632Digital arrayOtherFail
essv887421136SAMN00001634Digital arrayOtherFail
essv887421138SAMN00001634Digital arrayOtherFail
essv887420836SAMN00001636Digital arrayOtherFail
essv887420838SAMN00001636Digital arrayOtherFail
essv887419736SAMN00001645Digital arrayOtherFail
essv887419738SAMN00001645Digital arrayOtherFail
essv887421236SAMN00001667Digital arrayOtherFail
essv887421238SAMN00001667Digital arrayOtherFail
essv887419936SAMN00797054Digital arrayOtherFail
essv887419938SAMN00797054Digital arrayOtherFail
essv887420936SAMN00797154Digital arrayOtherFail
essv887420938SAMN00797154Digital arrayOtherFail
essv887419836SAMN00801237Digital arrayOtherFail
essv887419838SAMN00801237Digital arrayOtherFail
essv887420437SAMN00001579Sequencingde novo sequence assemblyPass
essv887420337SAMN00001585Sequencingde novo sequence assemblyPass
essv887420737SAMN00001589Sequencingde novo sequence assemblyPass
essv887421037SAMN00001592Sequencingde novo sequence assemblyPass
essv887420037SAMN00001593Sequencingde novo sequence assemblyPass
essv887420137SAMN00001624Sequencingde novo sequence assemblyPass
essv887420637SAMN00001625Sequencingde novo sequence assemblyPass
essv887420537SAMN00001626Sequencingde novo sequence assemblyPass
essv887419637SAMN00001627Sequencingde novo sequence assemblyPass
essv887421437SAMN00001632Sequencingde novo sequence assemblyPass
essv887421137SAMN00001634Sequencingde novo sequence assemblyPass
essv887420837SAMN00001636Sequencingde novo sequence assemblyPass
essv887419737SAMN00001645Sequencingde novo sequence assemblyPass
essv887421237SAMN00001667Sequencingde novo sequence assemblyPass
essv887419937SAMN00797054Sequencingde novo sequence assemblyPass
essv887420937SAMN00797154Sequencingde novo sequence assemblyPass
essv887419837SAMN00801237Sequencingde novo sequence assemblyPass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

Support Center