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esv2664461

  • Variant Calls:22
  • Validation:Yes
  • Clinical Assertions: No
  • Region Size:10,148

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 124 SVs from 32 studies. See in: genome view    
Remapped(Score: Perfect):54,282,033-54,292,180Question Mark
Overlapping variant regions from other studies: 124 SVs from 32 studies. See in: genome view    
Submitted genomic54,315,945-54,326,092Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
esv2664461RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
esv2664461Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisOther Calls in this Sample and Study
essv5408771deletionSAMN00001170SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,684
essv5451038deletionSAMN00001173SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,274
essv5466599deletionSAMN00001176SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,261
essv5487383deletionSAMN00001120SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,364
essv5578158deletionSAMN00001160SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,151
essv5590170deletionSAMN00001166SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,284
essv5630505deletionSAMN00001182SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,509
essv5640782deletionSAMN00001168SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,626
essv5679475deletionSAMN00001118SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,283
essv5689814deletionSAMN00001193SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,179
essv5693432deletionSAMN00001159SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,248
essv5727940deletionSAMN00001165SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,213
essv5846970deletionSAMN00001162SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,432
essv5941997deletionSAMN00001194SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,133
essv5960756deletionSAMN00001164SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,515
essv6005964deletionSAMN00001181SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,016
essv6008701deletionSAMN00001119SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping912
essv6082560deletionSAMN00001163SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,404
essv6313210deletionSAMN00001174SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,500
essv6339072deletionSAMN00001121SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,383
essv6367835deletionSAMN00001191SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,461
essv6407164deletionSAMN00001102SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,259

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
essv5408771RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv5451038RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv5466599RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv5487383RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv5578158RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv5590170RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv5630505RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv5640782RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv5679475RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv5689814RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv5693432RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv5727940RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv5846970RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv5941997RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv5960756RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv6005964RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv6008701RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv6082560RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv6313210RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv6339072RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv6367835RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv6407164RemappedPerfectNC_000016.10:g.(54
282033_54282404)_(
54291810_54292180)
del
GRCh38.p12First PassNC_000016.10Chr1654,282,03354,282,40454,291,81054,292,180
essv5408771Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092
essv5451038Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092
essv5466599Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092
essv5487383Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092
essv5578158Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092
essv5590170Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092
essv5630505Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092
essv5640782Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092
essv5679475Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092
essv5689814Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092
essv5693432Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092
essv5727940Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092
essv5846970Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092
essv5941997Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092
essv5960756Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092
essv6005964Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092
essv6008701Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092
essv6082560Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092
essv6313210Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092
essv6339072Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092
essv6367835Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092
essv6407164Submitted genomicNC_000016.9:g.(543
15945_54316316)_(5
4325722_54326092)d
el
GRCh37 (hg19)NC_000016.9Chr1654,315,94554,316,31654,325,72254,326,092

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
essv64071649SAMN00001102Oligo aCGHProbe signal intensityFail
essv56794759SAMN00001118Oligo aCGHProbe signal intensityFail
essv60087019SAMN00001119Oligo aCGHProbe signal intensityFail
essv54873839SAMN00001120Oligo aCGHProbe signal intensityFail
essv63390729SAMN00001121Oligo aCGHProbe signal intensityFail
essv56934329SAMN00001159Oligo aCGHProbe signal intensityFail
essv55781589SAMN00001160Oligo aCGHProbe signal intensityFail
essv58469709SAMN00001162Oligo aCGHProbe signal intensityFail
essv60825609SAMN00001163Oligo aCGHProbe signal intensityFail
essv59607569SAMN00001164Oligo aCGHProbe signal intensityFail
essv57279409SAMN00001165Oligo aCGHProbe signal intensityFail
essv55901709SAMN00001166Oligo aCGHProbe signal intensityFail
essv56407829SAMN00001168Oligo aCGHProbe signal intensityFail
essv54087719SAMN00001170Oligo aCGHProbe signal intensityFail
essv54510389SAMN00001173Oligo aCGHProbe signal intensityFail
essv63132109SAMN00001174Oligo aCGHProbe signal intensityFail
essv54665999SAMN00001176Oligo aCGHProbe signal intensityFail
essv60059649SAMN00001181Oligo aCGHProbe signal intensityFail
essv56305059SAMN00001182Oligo aCGHProbe signal intensityFail
essv63678359SAMN00001191Oligo aCGHProbe signal intensityFail
essv56898149SAMN00001193Oligo aCGHProbe signal intensityFail
essv59419979SAMN00001194Oligo aCGHProbe signal intensityFail
essv64071647SAMN00001102SNP arrayProbe signal intensityPass
essv56794757SAMN00001118SNP arrayProbe signal intensityPass
essv60087017SAMN00001119SNP arrayProbe signal intensityPass
essv54873837SAMN00001120SNP arrayProbe signal intensityPass
essv63390727SAMN00001121SNP arrayProbe signal intensityPass
essv56934327SAMN00001159SNP arrayProbe signal intensityPass
essv55781587SAMN00001160SNP arrayProbe signal intensityPass
essv58469707SAMN00001162SNP arrayProbe signal intensityPass
essv60825607SAMN00001163SNP arrayProbe signal intensityPass
essv59607567SAMN00001164SNP arrayProbe signal intensityPass
essv57279407SAMN00001165SNP arrayProbe signal intensityPass
essv55901707SAMN00001166SNP arrayProbe signal intensityPass
essv56407827SAMN00001168SNP arrayProbe signal intensityPass
essv54087717SAMN00001170SNP arrayProbe signal intensityPass
essv54510387SAMN00001173SNP arrayProbe signal intensityPass
essv63132107SAMN00001174SNP arrayProbe signal intensityPass
essv54665997SAMN00001176SNP arrayProbe signal intensityPass
essv60059647SAMN00001181SNP arrayProbe signal intensityPass
essv56305057SAMN00001182SNP arrayProbe signal intensityPass
essv63678357SAMN00001191SNP arrayProbe signal intensityPass
essv56898147SAMN00001193SNP arrayProbe signal intensityPass
essv59419977SAMN00001194SNP arrayProbe signal intensityPass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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