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esv3424722

  • Variant Calls:12
  • Validation:Fail
  • Clinical Assertions: No
  • Region Size:277,786

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 558 SVs from 44 studies. See in: genome view    
Remapped(Score: Perfect):125,872,150-126,150,178Question Mark
Overlapping variant regions from other studies: 558 SVs from 44 studies. See in: genome view    
Remapped(Score: Perfect):125,207,843-125,485,871Question Mark
Overlapping variant regions from other studies: 229 SVs from 13 studies. See in: genome view    
Submitted genomic125,235,742-125,513,770Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
esv3424722RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr5125,872,286 (-136, +74)126,150,071 (-113, +107)
esv3424722RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000005.9Chr5125,207,979 (-136, +74)125,485,764 (-113, +107)
esv3424722Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000005.8Chr5125,235,878 (-136, +74)125,513,663 (-113, +107)

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisOther Calls in this Sample and Study
essv8104465deletionSAMN00001589SequencingPaired-end mapping10,468
essv8104466deletionSAMN00801684SequencingPaired-end mapping16,980
essv8104467deletionSAMN00001628SequencingPaired-end mapping11,296
essv8104468deletionSAMN00800258SequencingPaired-end mapping12,098
essv8104469deletionSAMN00801103SequencingPaired-end mapping9,141
essv8104470deletionSAMN00001610SequencingPaired-end mapping15,427
essv8104471deletionSAMN00801682SequencingPaired-end mapping12,291
essv8104472deletionSAMN00801646SequencingPaired-end mapping11,757
essv8104473deletionSAMN00001591SequencingPaired-end mapping13,341
essv8104475deletionSAMN00001548SequencingPaired-end mapping9,117
essv8104476deletionSAMN00001669SequencingPaired-end mapping5,311
essv8104477deletionSAMN00001578SequencingPaired-end mapping9,621

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
essv8104465RemappedPerfectNC_000005.10:g.(12
5872150_125872360)
_(126149958_126150
178)del
GRCh38.p12First PassNC_000005.10Chr5125,872,286 (-136, +74)126,150,071 (-113, +107)
essv8104466RemappedPerfectNC_000005.10:g.(12
5872150_125872360)
_(126149958_126150
178)del
GRCh38.p12First PassNC_000005.10Chr5125,872,286 (-136, +74)126,150,071 (-113, +107)
essv8104467RemappedPerfectNC_000005.10:g.(12
5872150_125872360)
_(126149958_126150
178)del
GRCh38.p12First PassNC_000005.10Chr5125,872,286 (-136, +74)126,150,071 (-113, +107)
essv8104468RemappedPerfectNC_000005.10:g.(12
5872150_125872360)
_(126149958_126150
178)del
GRCh38.p12First PassNC_000005.10Chr5125,872,286 (-136, +74)126,150,071 (-113, +107)
essv8104469RemappedPerfectNC_000005.10:g.(12
5872150_125872360)
_(126149958_126150
178)del
GRCh38.p12First PassNC_000005.10Chr5125,872,286 (-136, +74)126,150,071 (-113, +107)
essv8104470RemappedPerfectNC_000005.10:g.(12
5872150_125872360)
_(126149958_126150
178)del
GRCh38.p12First PassNC_000005.10Chr5125,872,286 (-136, +74)126,150,071 (-113, +107)
essv8104471RemappedPerfectNC_000005.10:g.(12
5872150_125872360)
_(126149958_126150
178)del
GRCh38.p12First PassNC_000005.10Chr5125,872,286 (-136, +74)126,150,071 (-113, +107)
essv8104472RemappedPerfectNC_000005.10:g.(12
5872150_125872360)
_(126149958_126150
178)del
GRCh38.p12First PassNC_000005.10Chr5125,872,286 (-136, +74)126,150,071 (-113, +107)
essv8104473RemappedPerfectNC_000005.10:g.(12
5872150_125872360)
_(126149958_126150
178)del
GRCh38.p12First PassNC_000005.10Chr5125,872,286 (-136, +74)126,150,071 (-113, +107)
essv8104475RemappedPerfectNC_000005.10:g.(12
5872150_125872360)
_(126149958_126150
178)del
GRCh38.p12First PassNC_000005.10Chr5125,872,286 (-136, +74)126,150,071 (-113, +107)
essv8104476RemappedPerfectNC_000005.10:g.(12
5872150_125872360)
_(126149958_126150
178)del
GRCh38.p12First PassNC_000005.10Chr5125,872,286 (-136, +74)126,150,071 (-113, +107)
essv8104477RemappedPerfectNC_000005.10:g.(12
5872150_125872360)
_(126149958_126150
178)del
GRCh38.p12First PassNC_000005.10Chr5125,872,286 (-136, +74)126,150,071 (-113, +107)
essv8104465RemappedPerfectNC_000005.9:g.(125
207843_125208053)_
(125485651_1254858
71)del
GRCh37.p13First PassNC_000005.9Chr5125,207,979 (-136, +74)125,485,764 (-113, +107)
essv8104466RemappedPerfectNC_000005.9:g.(125
207843_125208053)_
(125485651_1254858
71)del
GRCh37.p13First PassNC_000005.9Chr5125,207,979 (-136, +74)125,485,764 (-113, +107)
essv8104467RemappedPerfectNC_000005.9:g.(125
207843_125208053)_
(125485651_1254858
71)del
GRCh37.p13First PassNC_000005.9Chr5125,207,979 (-136, +74)125,485,764 (-113, +107)
essv8104468RemappedPerfectNC_000005.9:g.(125
207843_125208053)_
(125485651_1254858
71)del
GRCh37.p13First PassNC_000005.9Chr5125,207,979 (-136, +74)125,485,764 (-113, +107)
essv8104469RemappedPerfectNC_000005.9:g.(125
207843_125208053)_
(125485651_1254858
71)del
GRCh37.p13First PassNC_000005.9Chr5125,207,979 (-136, +74)125,485,764 (-113, +107)
essv8104470RemappedPerfectNC_000005.9:g.(125
207843_125208053)_
(125485651_1254858
71)del
GRCh37.p13First PassNC_000005.9Chr5125,207,979 (-136, +74)125,485,764 (-113, +107)
essv8104471RemappedPerfectNC_000005.9:g.(125
207843_125208053)_
(125485651_1254858
71)del
GRCh37.p13First PassNC_000005.9Chr5125,207,979 (-136, +74)125,485,764 (-113, +107)
essv8104472RemappedPerfectNC_000005.9:g.(125
207843_125208053)_
(125485651_1254858
71)del
GRCh37.p13First PassNC_000005.9Chr5125,207,979 (-136, +74)125,485,764 (-113, +107)
essv8104473RemappedPerfectNC_000005.9:g.(125
207843_125208053)_
(125485651_1254858
71)del
GRCh37.p13First PassNC_000005.9Chr5125,207,979 (-136, +74)125,485,764 (-113, +107)
essv8104475RemappedPerfectNC_000005.9:g.(125
207843_125208053)_
(125485651_1254858
71)del
GRCh37.p13First PassNC_000005.9Chr5125,207,979 (-136, +74)125,485,764 (-113, +107)
essv8104476RemappedPerfectNC_000005.9:g.(125
207843_125208053)_
(125485651_1254858
71)del
GRCh37.p13First PassNC_000005.9Chr5125,207,979 (-136, +74)125,485,764 (-113, +107)
essv8104477RemappedPerfectNC_000005.9:g.(125
207843_125208053)_
(125485651_1254858
71)del
GRCh37.p13First PassNC_000005.9Chr5125,207,979 (-136, +74)125,485,764 (-113, +107)
essv8104465Submitted genomicNC_000005.8:g.(125
235742_125235952)_
(125513550_1255137
70)del
NCBI36 (hg18)NC_000005.8Chr5125,235,878 (-136, +74)125,513,663 (-113, +107)
essv8104466Submitted genomicNC_000005.8:g.(125
235742_125235952)_
(125513550_1255137
70)del
NCBI36 (hg18)NC_000005.8Chr5125,235,878 (-136, +74)125,513,663 (-113, +107)
essv8104467Submitted genomicNC_000005.8:g.(125
235742_125235952)_
(125513550_1255137
70)del
NCBI36 (hg18)NC_000005.8Chr5125,235,878 (-136, +74)125,513,663 (-113, +107)
essv8104468Submitted genomicNC_000005.8:g.(125
235742_125235952)_
(125513550_1255137
70)del
NCBI36 (hg18)NC_000005.8Chr5125,235,878 (-136, +74)125,513,663 (-113, +107)
essv8104469Submitted genomicNC_000005.8:g.(125
235742_125235952)_
(125513550_1255137
70)del
NCBI36 (hg18)NC_000005.8Chr5125,235,878 (-136, +74)125,513,663 (-113, +107)
essv8104470Submitted genomicNC_000005.8:g.(125
235742_125235952)_
(125513550_1255137
70)del
NCBI36 (hg18)NC_000005.8Chr5125,235,878 (-136, +74)125,513,663 (-113, +107)
essv8104471Submitted genomicNC_000005.8:g.(125
235742_125235952)_
(125513550_1255137
70)del
NCBI36 (hg18)NC_000005.8Chr5125,235,878 (-136, +74)125,513,663 (-113, +107)
essv8104472Submitted genomicNC_000005.8:g.(125
235742_125235952)_
(125513550_1255137
70)del
NCBI36 (hg18)NC_000005.8Chr5125,235,878 (-136, +74)125,513,663 (-113, +107)
essv8104473Submitted genomicNC_000005.8:g.(125
235742_125235952)_
(125513550_1255137
70)del
NCBI36 (hg18)NC_000005.8Chr5125,235,878 (-136, +74)125,513,663 (-113, +107)
essv8104475Submitted genomicNC_000005.8:g.(125
235742_125235952)_
(125513550_1255137
70)del
NCBI36 (hg18)NC_000005.8Chr5125,235,878 (-136, +74)125,513,663 (-113, +107)
essv8104476Submitted genomicNC_000005.8:g.(125
235742_125235952)_
(125513550_1255137
70)del
NCBI36 (hg18)NC_000005.8Chr5125,235,878 (-136, +74)125,513,663 (-113, +107)
essv8104477Submitted genomicNC_000005.8:g.(125
235742_125235952)_
(125513550_1255137
70)del
NCBI36 (hg18)NC_000005.8Chr5125,235,878 (-136, +74)125,513,663 (-113, +107)

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
essv810447536SAMN00001548Digital arrayOtherFail
essv810447538SAMN00001548Digital arrayOtherFail
essv810447736SAMN00001578Digital arrayOtherFail
essv810447738SAMN00001578Digital arrayOtherFail
essv810446536SAMN00001589Digital arrayOtherFail
essv810446538SAMN00001589Digital arrayOtherFail
essv810447336SAMN00001591Digital arrayOtherFail
essv810447338SAMN00001591Digital arrayOtherFail
essv810447036SAMN00001610Digital arrayOtherFail
essv810447038SAMN00001610Digital arrayOtherFail
essv810446736SAMN00001628Digital arrayOtherFail
essv810446738SAMN00001628Digital arrayOtherFail
essv810447636SAMN00001669Digital arrayOtherFail
essv810447638SAMN00001669Digital arrayOtherFail
essv810446836SAMN00800258Digital arrayOtherFail
essv810446838SAMN00800258Digital arrayOtherFail
essv810446936SAMN00801103Digital arrayOtherFail
essv810446938SAMN00801103Digital arrayOtherFail
essv810447236SAMN00801646Digital arrayOtherFail
essv810447238SAMN00801646Digital arrayOtherFail
essv810447136SAMN00801682Digital arrayOtherFail
essv810447138SAMN00801682Digital arrayOtherFail
essv810446636SAMN00801684Digital arrayOtherFail
essv810446638SAMN00801684Digital arrayOtherFail

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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