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esv12997

  • Variant Calls:3
  • Validation:Yes
  • Clinical Assertions: No
  • Region Size:34,922

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 1557 SVs from 89 studies. See in: genome view    
Remapped(Score: Perfect):142,059,834-142,094,755Question Mark
Overlapping variant regions from other studies: 1330 SVs from 69 studies. See in: genome view    
Remapped(Score: Perfect):21,714-56,635Question Mark
Overlapping variant regions from other studies: 1469 SVs from 80 studies. See in: genome view    
Remapped(Score: Perfect):141,759,634-141,794,555Question Mark
Overlapping variant regions from other studies: 1032 SVs from 50 studies. See in: genome view    
Remapped(Score: Perfect):201,785-236,706Question Mark
Overlapping variant regions from other studies: 617 SVs from 31 studies. See in: genome view    
Submitted genomic141,406,103-141,441,024Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
esv12997RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000007.14Chr7142,059,834142,094,755
esv12997RemappedPerfectGRCh38.p12ALT_REF_LOCI_1Second PassNT_187562.1Chr7|NT_18
7562.1		21,71456,635
esv12997RemappedPerfectGRCh37.p13Primary AssemblySecond PassNC_000007.13Chr7141,759,634141,794,555
esv12997RemappedPerfectGRCh37.p13PATCHESFirst PassNW_003571040.1Chr7|NW_00
3571040.1		201,785236,706
esv12997Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000007.12Chr7141,406,103141,441,024

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisOther Calls in this Sample and Study
essv57682copy number lossNA11993Oligo aCGHProbe signal intensity1,116
essv73810copy number gainNA12156Oligo aCGHProbe signal intensity1,085
essv40003copy number lossNA12878Oligo aCGHProbe signal intensity1,172

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
essv57682RemappedPerfectNT_187562.1:g.(?_2
1714)_(48971_?)del		GRCh38.p12Second PassNT_187562.1Chr7|NT_18
7562.1		21,71448,971
essv73810RemappedPerfectNT_187562.1:g.(?_2
2093)_(48249_?)dup		GRCh38.p12Second PassNT_187562.1Chr7|NT_18
7562.1		22,09348,249
essv40003RemappedPerfectNT_187562.1:g.(?_2
7494)_(56635_?)del		GRCh38.p12Second PassNT_187562.1Chr7|NT_18
7562.1		27,49456,635
essv57682RemappedPerfectNC_000007.14:g.(?_
142059834)_(142087
091_?)del		GRCh38.p12First PassNC_000007.14Chr7142,059,834142,087,091
essv73810RemappedPerfectNC_000007.14:g.(?_
142060213)_(142086
369_?)dup		GRCh38.p12First PassNC_000007.14Chr7142,060,213142,086,369
essv40003RemappedPerfectNC_000007.14:g.(?_
142065614)_(142094
755_?)del		GRCh38.p12First PassNC_000007.14Chr7142,065,614142,094,755
essv57682RemappedPerfectNW_003571040.1:g.(
?_201785)_(229042_
?)del		GRCh37.p13First PassNW_003571040.1Chr7|NW_00
3571040.1		201,785229,042
essv73810RemappedPerfectNW_003571040.1:g.(
?_202164)_(228320_
?)dup		GRCh37.p13First PassNW_003571040.1Chr7|NW_00
3571040.1		202,164228,320
essv40003RemappedPerfectNW_003571040.1:g.(
?_207565)_(236706_
?)del		GRCh37.p13First PassNW_003571040.1Chr7|NW_00
3571040.1		207,565236,706
essv57682RemappedPerfectNC_000007.13:g.(?_
141759634)_(141786
891_?)del		GRCh37.p13Second PassNC_000007.13Chr7141,759,634141,786,891
essv73810RemappedPerfectNC_000007.13:g.(?_
141760013)_(141786
169_?)dup		GRCh37.p13Second PassNC_000007.13Chr7141,760,013141,786,169
essv40003RemappedPerfectNC_000007.13:g.(?_
141765414)_(141794
555_?)del		GRCh37.p13Second PassNC_000007.13Chr7141,765,414141,794,555
essv57682Submitted genomicNC_000007.12:g.(?_
141406103)_(141433
360_?)del		NCBI36 (hg18)NC_000007.12Chr7141,406,103141,433,360
essv73810Submitted genomicNC_000007.12:g.(?_
141406482)_(141432
638_?)dup		NCBI36 (hg18)NC_000007.12Chr7141,406,482141,432,638
essv40003Submitted genomicNC_000007.12:g.(?_
141411883)_(141441
024_?)del		NCBI36 (hg18)NC_000007.12Chr7141,411,883141,441,024

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
essv576822NA11993Oligo aCGHProbe signal intensityPass
essv738102NA12156Oligo aCGHProbe signal intensityPass
essv400032NA12878Oligo aCGHProbe signal intensityPass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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