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esv2669049

  • Variant Calls:26
  • Validation:Yes
  • Clinical Assertions: No
  • Region Size:18,148

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 333 SVs from 63 studies. See in: genome view    
Remapped(Score: Perfect):202,430,622-202,448,769Question Mark
Overlapping variant regions from other studies: 333 SVs from 63 studies. See in: genome view    
Submitted genomic203,295,345-203,313,492Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
esv2669049RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
esv2669049Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisOther Calls in this Sample and Study
essv5464547deletionSAMN00001674SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,625
essv5470278deletionSAMN00000570SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping924
essv5557369deletionSAMN00000549SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,136
essv5564130deletionSAMN00000475SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,658
essv5619293deletionSAMN00000414SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,260
essv5650477deletionSAMN00001584SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,421
essv5765190deletionSAMN00001664SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping794
essv5772668deletionSAMN00004417SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,314
essv5785575deletionSAMN00001581SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,469
essv5807347deletionSAMN00001663SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,745
essv5822553deletionSAMN00001668SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,411
essv5825943deletionSAMN00001583SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,451
essv5881732deletionSAMN00001589SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,492
essv5934846deletionSAMN00001684SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,509
essv5958062deletionSAMN00000478SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,349
essv5999888deletionSAMN00000474SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,357
essv6073273deletionSAMN00001626SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,427
essv6133223deletionSAMN00001590SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,510
essv6155507deletionSAMN00001688SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping843
essv6156943deletionSAMN00000568SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,629
essv6204341deletionSAMN00001673SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,111
essv6257473deletionSAMN00001672SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping855
essv6413655deletionSAMN00001630SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,448
essv6431532deletionSAMN00001578SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,497
essv6464667deletionSAMN00000566SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping947
essv6473192deletionSAMN00000484SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping848

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
essv5464547RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv5470278RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv5557369RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv5564130RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv5619293RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv5650477RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv5765190RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv5772668RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv5785575RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv5807347RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv5822553RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv5825943RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv5881732RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv5934846RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv5958062RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv5999888RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv6073273RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv6133223RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv6155507RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv6156943RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv6204341RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv6257473RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv6413655RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv6431532RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv6464667RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv6473192RemappedPerfectNC_000002.12:g.(20
2430622_202430993)
_(202448399_202448
769)del		GRCh38.p12First PassNC_000002.12Chr2202,430,622202,430,993202,448,399202,448,769
essv5464547Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv5470278Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv5557369Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv5564130Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv5619293Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv5650477Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv5765190Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv5772668Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv5785575Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv5807347Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv5822553Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv5825943Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv5881732Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv5934846Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv5958062Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv5999888Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv6073273Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv6133223Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv6155507Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv6156943Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv6204341Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv6257473Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv6413655Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv6431532Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv6464667Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492
essv6473192Submitted genomicNC_000002.11:g.(20
3295345_203295716)
_(203313122_203313
492)del		GRCh37 (hg19)NC_000002.11Chr2203,295,345203,295,716203,313,122203,313,492

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
essv56192937SAMN00000414SNP arrayProbe signal intensityPass
essv59998887SAMN00000474SNP arrayProbe signal intensityPass
essv55641307SAMN00000475SNP arrayProbe signal intensityPass
essv59580627SAMN00000478SNP arrayProbe signal intensityPass
essv64731927SAMN00000484SNP arrayProbe signal intensityPass
essv55573697SAMN00000549SNP arrayProbe signal intensityPass
essv64646677SAMN00000566SNP arrayProbe signal intensityPass
essv61569437SAMN00000568SNP arrayProbe signal intensityPass
essv54702787SAMN00000570SNP arrayProbe signal intensityPass
essv64315327SAMN00001578SNP arrayProbe signal intensityPass
essv57855757SAMN00001581SNP arrayProbe signal intensityPass
essv58259437SAMN00001583SNP arrayProbe signal intensityPass
essv56504777SAMN00001584SNP arrayProbe signal intensityPass
essv58817327SAMN00001589SNP arrayProbe signal intensityPass
essv61332237SAMN00001590SNP arrayProbe signal intensityPass
essv60732737SAMN00001626SNP arrayProbe signal intensityPass
essv64136557SAMN00001630SNP arrayProbe signal intensityPass
essv58073477SAMN00001663SNP arrayProbe signal intensityPass
essv57651907SAMN00001664SNP arrayProbe signal intensityPass
essv58225537SAMN00001668SNP arrayProbe signal intensityPass
essv62574737SAMN00001672SNP arrayProbe signal intensityPass
essv62043417SAMN00001673SNP arrayProbe signal intensityPass
essv54645477SAMN00001674SNP arrayProbe signal intensityPass
essv59348467SAMN00001684SNP arrayProbe signal intensityPass
essv61555077SAMN00001688SNP arrayProbe signal intensityPass
essv57726687SAMN00004417SNP arrayProbe signal intensityPass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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