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esv2728128

  • Variant Calls:46
  • Validation:Not tested
  • Clinical Assertions: No
  • Region Size:26,441

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 573 SVs from 56 studies. See in: genome view    
Remapped(Score: Perfect):248,301,390-248,327,830Question Mark
Overlapping variant regions from other studies: 578 SVs from 56 studies. See in: genome view    
Submitted genomic248,464,692-248,491,132Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartOuter Stop
esv2728128RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000001.11Chr1248,301,390248,327,830
esv2728128Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000001.10Chr1248,464,692248,491,132

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisOther Calls in this Sample and Study
essv6699843deletionSSM039SequencingPaired-end mapping3,825
essv6718373deletionSSM044SequencingPaired-end mapping3,453
essv6689460deletionSSM036SequencingPaired-end mapping3,136
essv6853568deletionSSM087SequencingPaired-end mapping5,379
essv6693019deletionSSM037SequencingPaired-end mapping3,839
essv6710792deletionSSM042SequencingPaired-end mapping3,273
essv6785217deletionSSM069SequencingPaired-end mapping3,725
essv6756706deletionSSM059SequencingPaired-end mapping2,245
essv6761986deletionSSM062SequencingPaired-end mapping2,079
essv6972747deletionSSM029SequencingPaired-end mapping6,569
essv6868894deletionSSM090SequencingPaired-end mapping2,691
essv6807557deletionSSM075SequencingPaired-end mapping2,669
essv6910280deletionSSM015SequencingPaired-end mapping3,555
essv6789400deletionSSM070SequencingPaired-end mapping3,746
essv6781095deletionSSM068SequencingPaired-end mapping3,722
essv6714462deletionSSM043SequencingPaired-end mapping3,539
essv6742325deletionSSM053SequencingPaired-end mapping2,524
essv6759233deletionSSM061SequencingPaired-end mapping2,539
essv6671032deletionSSM005SequencingPaired-end mapping2,389
essv6726070deletionSSM046SequencingPaired-end mapping3,393
essv6918640deletionSSM003SequencingPaired-end mapping3,014
essv6917657deletionSSM017SequencingPaired-end mapping3,873
essv6764330deletionSSM063SequencingPaired-end mapping2,124
essv6786521deletionSSM009SequencingPaired-end mapping2,898
essv6937894deletionSSM022SequencingPaired-end mapping3,696
essv6733642deletionSSM049SequencingPaired-end mapping2,250
essv6747963deletionSSM056SequencingPaired-end mapping2,545
essv6864224deletionSSM089SequencingPaired-end mapping4,329
essv6874887deletionSSM092SequencingPaired-end mapping2,676
essv6797695deletionSSM072SequencingPaired-end mapping3,775
essv6669309deletionSSM031SequencingPaired-end mapping5,663
essv6683017deletionSSM034SequencingPaired-end mapping2,996
essv6707462deletionSSM041SequencingPaired-end mapping2,980
essv6942033deletionSSM023SequencingPaired-end mapping4,243
essv6847371deletionSSM086SequencingPaired-end mapping5,602
essv6729837deletionSSM047SequencingPaired-end mapping3,502
essv6722212deletionSSM045SequencingPaired-end mapping3,460
essv6950781deletionSSM025SequencingPaired-end mapping3,743
essv6736156deletionSSM050SequencingPaired-end mapping2,538
essv6739025deletionSSM052SequencingPaired-end mapping3,000
essv6720542deletionSSM007SequencingPaired-end mapping2,647
essv6750498deletionSSM008SequencingPaired-end mapping3,261
essv6844064deletionSSM085SequencingPaired-end mapping2,776
essv6871894deletionSSM091SequencingPaired-end mapping2,687
essv6815376deletionSSM002SequencingPaired-end mapping2,248
essv6667023deletionSSM030SequencingPaired-end mapping1,792

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartOuter Stop
essv6699843RemappedPerfectNC_000001.11:g.(24
8301390_?)_(?_2483
27800)del
GRCh38.p12First PassNC_000001.11Chr1248,301,390248,327,800
essv6718373RemappedPerfectNC_000001.11:g.(24
8301394_?)_(?_2483
27801)del
GRCh38.p12First PassNC_000001.11Chr1248,301,394248,327,801
essv6689460RemappedPerfectNC_000001.11:g.(24
8301394_?)_(?_2483
27810)del
GRCh38.p12First PassNC_000001.11Chr1248,301,394248,327,810
essv6853568RemappedPerfectNC_000001.11:g.(24
8301395_?)_(?_2483
27807)del
GRCh38.p12First PassNC_000001.11Chr1248,301,395248,327,807
essv6693019RemappedPerfectNC_000001.11:g.(24
8301401_?)_(?_2483
27824)del
GRCh38.p12First PassNC_000001.11Chr1248,301,401248,327,824
essv6710792RemappedPerfectNC_000001.11:g.(24
8301401_?)_(?_2483
27851)del
GRCh38.p12First PassNC_000001.11Chr1248,301,401248,327,851
essv6785217RemappedPerfectNC_000001.11:g.(24
8301402_?)_(?_2483
27835)del
GRCh38.p12First PassNC_000001.11Chr1248,301,402248,327,835
essv6756706RemappedPerfectNC_000001.11:g.(24
8301403_?)_(?_2483
27893)del
GRCh38.p12First PassNC_000001.11Chr1248,301,403248,327,893
essv6761986RemappedPerfectNC_000001.11:g.(24
8301404_?)_(?_2483
27754)del
GRCh38.p12First PassNC_000001.11Chr1248,301,404248,327,754
essv6972747RemappedPerfectNC_000001.11:g.(24
8301404_?)_(?_2483
27797)del
GRCh38.p12First PassNC_000001.11Chr1248,301,404248,327,797
essv6868894RemappedPerfectNC_000001.11:g.(24
8301404_?)_(?_2483
27811)del
GRCh38.p12First PassNC_000001.11Chr1248,301,404248,327,811
essv6807557RemappedPerfectNC_000001.11:g.(24
8301404_?)_(?_2483
27814)del
GRCh38.p12First PassNC_000001.11Chr1248,301,404248,327,814
essv6910280RemappedPerfectNC_000001.11:g.(24
8301404_?)_(?_2483
27818)del
GRCh38.p12First PassNC_000001.11Chr1248,301,404248,327,818
essv6789400RemappedPerfectNC_000001.11:g.(24
8301404_?)_(?_2483
27821)del
GRCh38.p12First PassNC_000001.11Chr1248,301,404248,327,821
essv6781095RemappedPerfectNC_000001.11:g.(24
8301404_?)_(?_2483
27824)del
GRCh38.p12First PassNC_000001.11Chr1248,301,404248,327,824
essv6714462RemappedPerfectNC_000001.11:g.(24
8301404_?)_(?_2483
27845)del
GRCh38.p12First PassNC_000001.11Chr1248,301,404248,327,845
essv6742325RemappedPerfectNC_000001.11:g.(24
8301404_?)_(?_2483
27881)del
GRCh38.p12First PassNC_000001.11Chr1248,301,404248,327,881
essv6759233RemappedPerfectNC_000001.11:g.(24
8301404_?)_(?_2483
27916)del
GRCh38.p12First PassNC_000001.11Chr1248,301,404248,327,916
essv6671032RemappedPerfectNC_000001.11:g.(24
8301405_?)_(?_2483
27813)del
GRCh38.p12First PassNC_000001.11Chr1248,301,405248,327,813
essv6726070RemappedPerfectNC_000001.11:g.(24
8301405_?)_(?_2483
27813)del
GRCh38.p12First PassNC_000001.11Chr1248,301,405248,327,813
essv6918640RemappedPerfectNC_000001.11:g.(24
8301405_?)_(?_2483
27824)del
GRCh38.p12First PassNC_000001.11Chr1248,301,405248,327,824
essv6917657RemappedPerfectNC_000001.11:g.(24
8301405_?)_(?_2483
27832)del
GRCh38.p12First PassNC_000001.11Chr1248,301,405248,327,832
essv6764330RemappedPerfectNC_000001.11:g.(24
8301405_?)_(?_2483
27838)del
GRCh38.p12First PassNC_000001.11Chr1248,301,405248,327,838
essv6786521RemappedPerfectNC_000001.11:g.(24
8301405_?)_(?_2483
27841)del
GRCh38.p12First PassNC_000001.11Chr1248,301,405248,327,841
essv6937894RemappedPerfectNC_000001.11:g.(24
8301405_?)_(?_2483
27846)del
GRCh38.p12First PassNC_000001.11Chr1248,301,405248,327,846
essv6733642RemappedPerfectNC_000001.11:g.(24
8301412_?)_(?_2483
27478)del
GRCh38.p12First PassNC_000001.11Chr1248,301,412248,327,478
essv6747963RemappedPerfectNC_000001.11:g.(24
8301412_?)_(?_2483
27638)del
GRCh38.p12First PassNC_000001.11Chr1248,301,412248,327,638
essv6864224RemappedPerfectNC_000001.11:g.(24
8301412_?)_(?_2483
27744)del
GRCh38.p12First PassNC_000001.11Chr1248,301,412248,327,744
essv6874887RemappedPerfectNC_000001.11:g.(24
8301412_?)_(?_2483
27772)del
GRCh38.p12First PassNC_000001.11Chr1248,301,412248,327,772
essv6797695RemappedPerfectNC_000001.11:g.(24
8301412_?)_(?_2483
27794)del
GRCh38.p12First PassNC_000001.11Chr1248,301,412248,327,794
essv6669309RemappedPerfectNC_000001.11:g.(24
8301412_?)_(?_2483
27805)del
GRCh38.p12First PassNC_000001.11Chr1248,301,412248,327,805
essv6683017RemappedPerfectNC_000001.11:g.(24
8301412_?)_(?_2483
27810)del
GRCh38.p12First PassNC_000001.11Chr1248,301,412248,327,810
essv6707462RemappedPerfectNC_000001.11:g.(24
8301412_?)_(?_2483
27813)del
GRCh38.p12First PassNC_000001.11Chr1248,301,412248,327,813
essv6942033RemappedPerfectNC_000001.11:g.(24
8301412_?)_(?_2483
27813)del
GRCh38.p12First PassNC_000001.11Chr1248,301,412248,327,813
essv6847371RemappedPerfectNC_000001.11:g.(24
8301412_?)_(?_2483
27825)del
GRCh38.p12First PassNC_000001.11Chr1248,301,412248,327,825
essv6729837RemappedPerfectNC_000001.11:g.(24
8301412_?)_(?_2483
27826)del
GRCh38.p12First PassNC_000001.11Chr1248,301,412248,327,826
essv6722212RemappedPerfectNC_000001.11:g.(24
8301412_?)_(?_2483
27837)del
GRCh38.p12First PassNC_000001.11Chr1248,301,412248,327,837
essv6950781RemappedPerfectNC_000001.11:g.(24
8301412_?)_(?_2483
27839)del
GRCh38.p12First PassNC_000001.11Chr1248,301,412248,327,839
essv6736156RemappedPerfectNC_000001.11:g.(24
8301412_?)_(?_2483
27895)del
GRCh38.p12First PassNC_000001.11Chr1248,301,412248,327,895
essv6739025RemappedPerfectNC_000001.11:g.(24
8301426_?)_(?_2483
27866)del
GRCh38.p12First PassNC_000001.11Chr1248,301,426248,327,866
essv6720542RemappedPerfectNC_000001.11:g.(24
8301434_?)_(?_2483
27818)del
GRCh38.p12First PassNC_000001.11Chr1248,301,434248,327,818
essv6750498RemappedPerfectNC_000001.11:g.(24
8301435_?)_(?_2483
27759)del
GRCh38.p12First PassNC_000001.11Chr1248,301,435248,327,759
essv6844064RemappedPerfectNC_000001.11:g.(24
8301547_?)_(?_2483
27831)del
GRCh38.p12First PassNC_000001.11Chr1248,301,547248,327,831
essv6871894RemappedPerfectNC_000001.11:g.(24
8301559_?)_(?_2483
27830)del
GRCh38.p12First PassNC_000001.11Chr1248,301,559248,327,830
essv6815376RemappedPerfectNC_000001.11:g.(24
8301618_?)_(?_2483
27640)del
GRCh38.p12First PassNC_000001.11Chr1248,301,618248,327,640
essv6667023RemappedPerfectNC_000001.11:g.(24
8302575_?)_(?_2483
27882)del
GRCh38.p12First PassNC_000001.11Chr1248,302,575248,327,882
essv6699843Submitted genomicNC_000001.10:g.(24
8464692_?)_(?_2484
91102)del
GRCh37 (hg19)NC_000001.10Chr1248,464,692248,491,102
essv6718373Submitted genomicNC_000001.10:g.(24
8464696_?)_(?_2484
91103)del
GRCh37 (hg19)NC_000001.10Chr1248,464,696248,491,103
essv6689460Submitted genomicNC_000001.10:g.(24
8464696_?)_(?_2484
91112)del
GRCh37 (hg19)NC_000001.10Chr1248,464,696248,491,112
essv6853568Submitted genomicNC_000001.10:g.(24
8464697_?)_(?_2484
91109)del
GRCh37 (hg19)NC_000001.10Chr1248,464,697248,491,109
essv6693019Submitted genomicNC_000001.10:g.(24
8464703_?)_(?_2484
91126)del
GRCh37 (hg19)NC_000001.10Chr1248,464,703248,491,126
essv6710792Submitted genomicNC_000001.10:g.(24
8464703_?)_(?_2484
91153)del
GRCh37 (hg19)NC_000001.10Chr1248,464,703248,491,153
essv6785217Submitted genomicNC_000001.10:g.(24
8464704_?)_(?_2484
91137)del
GRCh37 (hg19)NC_000001.10Chr1248,464,704248,491,137
essv6756706Submitted genomicNC_000001.10:g.(24
8464705_?)_(?_2484
91195)del
GRCh37 (hg19)NC_000001.10Chr1248,464,705248,491,195
essv6761986Submitted genomicNC_000001.10:g.(24
8464706_?)_(?_2484
91056)del
GRCh37 (hg19)NC_000001.10Chr1248,464,706248,491,056
essv6972747Submitted genomicNC_000001.10:g.(24
8464706_?)_(?_2484
91099)del
GRCh37 (hg19)NC_000001.10Chr1248,464,706248,491,099
essv6868894Submitted genomicNC_000001.10:g.(24
8464706_?)_(?_2484
91113)del
GRCh37 (hg19)NC_000001.10Chr1248,464,706248,491,113
essv6807557Submitted genomicNC_000001.10:g.(24
8464706_?)_(?_2484
91116)del
GRCh37 (hg19)NC_000001.10Chr1248,464,706248,491,116
essv6910280Submitted genomicNC_000001.10:g.(24
8464706_?)_(?_2484
91120)del
GRCh37 (hg19)NC_000001.10Chr1248,464,706248,491,120
essv6789400Submitted genomicNC_000001.10:g.(24
8464706_?)_(?_2484
91123)del
GRCh37 (hg19)NC_000001.10Chr1248,464,706248,491,123
essv6781095Submitted genomicNC_000001.10:g.(24
8464706_?)_(?_2484
91126)del
GRCh37 (hg19)NC_000001.10Chr1248,464,706248,491,126
essv6714462Submitted genomicNC_000001.10:g.(24
8464706_?)_(?_2484
91147)del
GRCh37 (hg19)NC_000001.10Chr1248,464,706248,491,147
essv6742325Submitted genomicNC_000001.10:g.(24
8464706_?)_(?_2484
91183)del
GRCh37 (hg19)NC_000001.10Chr1248,464,706248,491,183
essv6759233Submitted genomicNC_000001.10:g.(24
8464706_?)_(?_2484
91218)del
GRCh37 (hg19)NC_000001.10Chr1248,464,706248,491,218
essv6671032Submitted genomicNC_000001.10:g.(24
8464707_?)_(?_2484
91115)del
GRCh37 (hg19)NC_000001.10Chr1248,464,707248,491,115
essv6726070Submitted genomicNC_000001.10:g.(24
8464707_?)_(?_2484
91115)del
GRCh37 (hg19)NC_000001.10Chr1248,464,707248,491,115
essv6918640Submitted genomicNC_000001.10:g.(24
8464707_?)_(?_2484
91126)del
GRCh37 (hg19)NC_000001.10Chr1248,464,707248,491,126
essv6917657Submitted genomicNC_000001.10:g.(24
8464707_?)_(?_2484
91134)del
GRCh37 (hg19)NC_000001.10Chr1248,464,707248,491,134
essv6764330Submitted genomicNC_000001.10:g.(24
8464707_?)_(?_2484
91140)del
GRCh37 (hg19)NC_000001.10Chr1248,464,707248,491,140
essv6786521Submitted genomicNC_000001.10:g.(24
8464707_?)_(?_2484
91143)del
GRCh37 (hg19)NC_000001.10Chr1248,464,707248,491,143
essv6937894Submitted genomicNC_000001.10:g.(24
8464707_?)_(?_2484
91148)del
GRCh37 (hg19)NC_000001.10Chr1248,464,707248,491,148
essv6733642Submitted genomicNC_000001.10:g.(24
8464714_?)_(?_2484
90780)del
GRCh37 (hg19)NC_000001.10Chr1248,464,714248,490,780
essv6747963Submitted genomicNC_000001.10:g.(24
8464714_?)_(?_2484
90940)del
GRCh37 (hg19)NC_000001.10Chr1248,464,714248,490,940
essv6864224Submitted genomicNC_000001.10:g.(24
8464714_?)_(?_2484
91046)del
GRCh37 (hg19)NC_000001.10Chr1248,464,714248,491,046
essv6874887Submitted genomicNC_000001.10:g.(24
8464714_?)_(?_2484
91074)del
GRCh37 (hg19)NC_000001.10Chr1248,464,714248,491,074
essv6797695Submitted genomicNC_000001.10:g.(24
8464714_?)_(?_2484
91096)del
GRCh37 (hg19)NC_000001.10Chr1248,464,714248,491,096
essv6669309Submitted genomicNC_000001.10:g.(24
8464714_?)_(?_2484
91107)del
GRCh37 (hg19)NC_000001.10Chr1248,464,714248,491,107
essv6683017Submitted genomicNC_000001.10:g.(24
8464714_?)_(?_2484
91112)del
GRCh37 (hg19)NC_000001.10Chr1248,464,714248,491,112
essv6707462Submitted genomicNC_000001.10:g.(24
8464714_?)_(?_2484
91115)del
GRCh37 (hg19)NC_000001.10Chr1248,464,714248,491,115
essv6942033Submitted genomicNC_000001.10:g.(24
8464714_?)_(?_2484
91115)del
GRCh37 (hg19)NC_000001.10Chr1248,464,714248,491,115
essv6847371Submitted genomicNC_000001.10:g.(24
8464714_?)_(?_2484
91127)del
GRCh37 (hg19)NC_000001.10Chr1248,464,714248,491,127
essv6729837Submitted genomicNC_000001.10:g.(24
8464714_?)_(?_2484
91128)del
GRCh37 (hg19)NC_000001.10Chr1248,464,714248,491,128
essv6722212Submitted genomicNC_000001.10:g.(24
8464714_?)_(?_2484
91139)del
GRCh37 (hg19)NC_000001.10Chr1248,464,714248,491,139
essv6950781Submitted genomicNC_000001.10:g.(24
8464714_?)_(?_2484
91141)del
GRCh37 (hg19)NC_000001.10Chr1248,464,714248,491,141
essv6736156Submitted genomicNC_000001.10:g.(24
8464714_?)_(?_2484
91197)del
GRCh37 (hg19)NC_000001.10Chr1248,464,714248,491,197
essv6739025Submitted genomicNC_000001.10:g.(24
8464728_?)_(?_2484
91168)del
GRCh37 (hg19)NC_000001.10Chr1248,464,728248,491,168
essv6720542Submitted genomicNC_000001.10:g.(24
8464736_?)_(?_2484
91120)del
GRCh37 (hg19)NC_000001.10Chr1248,464,736248,491,120
essv6750498Submitted genomicNC_000001.10:g.(24
8464737_?)_(?_2484
91061)del
GRCh37 (hg19)NC_000001.10Chr1248,464,737248,491,061
essv6844064Submitted genomicNC_000001.10:g.(24
8464849_?)_(?_2484
91133)del
GRCh37 (hg19)NC_000001.10Chr1248,464,849248,491,133
essv6871894Submitted genomicNC_000001.10:g.(24
8464861_?)_(?_2484
91132)del
GRCh37 (hg19)NC_000001.10Chr1248,464,861248,491,132
essv6815376Submitted genomicNC_000001.10:g.(24
8464920_?)_(?_2484
90942)del
GRCh37 (hg19)NC_000001.10Chr1248,464,920248,490,942
essv6667023Submitted genomicNC_000001.10:g.(24
8465877_?)_(?_2484
91184)del
GRCh37 (hg19)NC_000001.10Chr1248,465,877248,491,184

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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