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esv2663487

  • Variant Calls:34
  • Validation:Yes
  • Clinical Assertions: No
  • Region Size:9,750

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 201 SVs from 42 studies. See in: genome view    
Remapped(Score: Perfect):52,039,252-52,049,001Question Mark
Overlapping variant regions from other studies: 200 SVs from 42 studies. See in: genome view    
Submitted genomic50,116,612-50,126,361Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
esv2663487RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000017.11Chr1752,039,25252,049,001
esv2663487Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000017.10Chr1750,116,61250,126,361

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisOther Calls in this Sample and Study
essv5400984deletionSAMN00006525SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,128
essv5447475deletionSAMN00001639SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,246
essv5501375deletionSAMN00000442SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,006
essv5524556deletionSAMN00001620SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,235
essv5555293deletionSAMN00000921SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,039
essv5587036deletionSAMN00006456SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,686
essv5661751deletionSAMN00006499SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,734
essv5675395deletionSAMN00006549SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,666
essv5677889deletionSAMN00000458SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,421
essv5678957deletionSAMN00006469SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,602
essv5816309deletionSAMN00000419SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,634
essv5842972deletionSAMN00006444SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,678
essv5882628deletionSAMN00000519SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping949
essv5901068deletionSAMN00006480SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,600
essv5910723deletionSAMN00001597SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,335
essv5961227deletionSAMN00000440SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,197
essv5962025deletionSAMN00000536SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,164
essv6061407deletionSAMN00001619SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,363
essv6062681deletionSAMN00000923SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,015
essv6065156deletionSAMN00006532SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,169
essv6170529deletionSAMN00001616SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,254
essv6176600deletionSAMN00000540SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,075
essv6211653deletionSAMN00004689SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,655
essv6217698deletionSAMN00000924SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,049
essv6232504deletionSAMN00001034SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,111
essv6259780deletionSAMN00006463SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,668
essv6263802deletionSAMN00000530SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,423
essv6303537deletionSAMN00001622SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,501
essv6489867deletionSAMN00000432SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,561
essv6516275deletionSAMN00000544SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,188
essv6527718deletionSAMN00006481SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,764
essv6538882deletionSAMN00006564SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,702
essv6551397deletionSAMN00006573SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,689
essv6598349deletionSAMN00001029SequencingPaired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping1,237

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
essv5400984RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv5447475RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv5501375RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv5524556RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv5555293RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv5587036RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv5661751RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv5675395RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv5677889RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv5678957RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv5816309RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv5842972RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv5882628RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv5901068RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv5910723RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv5961227RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv5962025RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv6061407RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv6062681RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv6065156RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv6170529RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv6176600RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv6211653RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv6217698RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv6232504RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv6259780RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv6263802RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv6303537RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv6489867RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv6516275RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv6527718RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv6538882RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv6551397RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv6598349RemappedPerfectNC_000017.11:g.520
39252_52049001delA
GRCh38.p12First PassNC_000017.11Chr1752,039,25252,049,001
essv5400984Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv5447475Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv5501375Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv5524556Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv5555293Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv5587036Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv5661751Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv5675395Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv5677889Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv5678957Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv5816309Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv5842972Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv5882628Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv5901068Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv5910723Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv5961227Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv5962025Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv6061407Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv6062681Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv6065156Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv6170529Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv6176600Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv6211653Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv6217698Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv6232504Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv6259780Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv6263802Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv6303537Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv6489867Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv6516275Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv6527718Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv6538882Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv6551397Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361
essv6598349Submitted genomicNC_000017.10:g.501
16612_50126361delA
GRCh37 (hg19)NC_000017.10Chr1750,116,61250,126,361

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
essv58163099SAMN00000419Oligo aCGHProbe signal intensityPass
essv64898679SAMN00000432Oligo aCGHProbe signal intensityPass
essv59612279SAMN00000440Oligo aCGHProbe signal intensityPass
essv55013759SAMN00000442Oligo aCGHProbe signal intensityPass
essv56778899SAMN00000458Oligo aCGHProbe signal intensityPass
essv58826289SAMN00000519Oligo aCGHProbe signal intensityPass
essv62638029SAMN00000530Oligo aCGHProbe signal intensityPass
essv59620259SAMN00000536Oligo aCGHProbe signal intensityPass
essv61766009SAMN00000540Oligo aCGHProbe signal intensityPass
essv65162759SAMN00000544Oligo aCGHProbe signal intensityPass
essv55552939SAMN00000921Oligo aCGHProbe signal intensityPass
essv60626819SAMN00000923Oligo aCGHProbe signal intensityPass
essv62176989SAMN00000924Oligo aCGHProbe signal intensityPass
essv65983499SAMN00001029Oligo aCGHProbe signal intensityPass
essv62325049SAMN00001034Oligo aCGHProbe signal intensityPass
essv59107239SAMN00001597Oligo aCGHProbe signal intensityPass
essv61705299SAMN00001616Oligo aCGHProbe signal intensityPass
essv60614079SAMN00001619Oligo aCGHProbe signal intensityPass
essv55245569SAMN00001620Oligo aCGHProbe signal intensityPass
essv63035379SAMN00001622Oligo aCGHProbe signal intensityPass
essv54474759SAMN00001639Oligo aCGHProbe signal intensityPass
essv62116539SAMN00004689Oligo aCGHProbe signal intensityPass
essv58429729SAMN00006444Oligo aCGHProbe signal intensityPass
essv55870369SAMN00006456Oligo aCGHProbe signal intensityPass
essv62597809SAMN00006463Oligo aCGHProbe signal intensityPass
essv56789579SAMN00006469Oligo aCGHProbe signal intensityPass
essv59010689SAMN00006480Oligo aCGHProbe signal intensityPass
essv65277189SAMN00006481Oligo aCGHProbe signal intensityPass
essv56617519SAMN00006499Oligo aCGHProbe signal intensityPass
essv54009849SAMN00006525Oligo aCGHProbe signal intensityPass
essv60651569SAMN00006532Oligo aCGHProbe signal intensityPass
essv56753959SAMN00006549Oligo aCGHProbe signal intensityPass
essv65388829SAMN00006564Oligo aCGHProbe signal intensityPass
essv65513979SAMN00006573Oligo aCGHProbe signal intensityPass
essv58163097SAMN00000419SNP arrayProbe signal intensityPass
essv64898677SAMN00000432SNP arrayProbe signal intensityPass
essv59612277SAMN00000440SNP arrayProbe signal intensityPass
essv55013757SAMN00000442SNP arrayProbe signal intensityPass
essv56778897SAMN00000458SNP arrayProbe signal intensityPass
essv58826287SAMN00000519SNP arrayProbe signal intensityPass
essv62638027SAMN00000530SNP arrayProbe signal intensityPass
essv59620257SAMN00000536SNP arrayProbe signal intensityPass
essv61766007SAMN00000540SNP arrayProbe signal intensityPass
essv65162757SAMN00000544SNP arrayProbe signal intensityPass
essv55552937SAMN00000921SNP arrayProbe signal intensityPass
essv60626817SAMN00000923SNP arrayProbe signal intensityPass
essv62176987SAMN00000924SNP arrayProbe signal intensityPass
essv65983497SAMN00001029SNP arrayProbe signal intensityPass
essv62325047SAMN00001034SNP arrayProbe signal intensityPass
essv59107237SAMN00001597SNP arrayProbe signal intensityPass
essv61705297SAMN00001616SNP arrayProbe signal intensityPass
essv60614077SAMN00001619SNP arrayProbe signal intensityPass
essv55245567SAMN00001620SNP arrayProbe signal intensityPass
essv63035377SAMN00001622SNP arrayProbe signal intensityPass
essv54474757SAMN00001639SNP arrayProbe signal intensityPass
essv62116537SAMN00004689SNP arrayProbe signal intensityPass
essv58429727SAMN00006444SNP arrayProbe signal intensityPass
essv55870367SAMN00006456SNP arrayProbe signal intensityPass
essv62597807SAMN00006463SNP arrayProbe signal intensityPass
essv56789577SAMN00006469SNP arrayProbe signal intensityPass
essv59010687SAMN00006480SNP arrayProbe signal intensityPass
essv65277187SAMN00006481SNP arrayProbe signal intensityPass
essv56617517SAMN00006499SNP arrayProbe signal intensityPass
essv54009847SAMN00006525SNP arrayProbe signal intensityPass
essv60651567SAMN00006532SNP arrayProbe signal intensityPass
essv56753957SAMN00006549SNP arrayProbe signal intensityPass
essv65388827SAMN00006564SNP arrayProbe signal intensityPass
essv65513977SAMN00006573SNP arrayProbe signal intensityPass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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