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esv2421896

  • Variant Calls:48
  • Validation:Not tested
  • Clinical Assertions: No
  • Region Size:15,548

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 297 SVs from 59 studies. See in: genome view    
Remapped(Score: Perfect):227,378,594-227,394,141Question Mark
Overlapping variant regions from other studies: 297 SVs from 59 studies. See in: genome view    
Remapped(Score: Perfect):228,243,310-228,258,857Question Mark
Overlapping variant regions from other studies: 86 SVs from 17 studies. See in: genome view    
Submitted genomic227,951,554-227,967,101Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
esv2421896RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr2227,378,594227,394,141
esv2421896RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000002.11Chr2228,243,310228,258,857
esv2421896Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000002.10Chr2227,951,554227,967,101

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisCopy numberOther Calls in this Sample and Study
essv5003505duplicationNA19659SNP arraySNP genotyping analysis3128
essv5004407duplicationNA20752SNP arraySNP genotyping analysis3139
essv5012274duplicationNA20813SNP arraySNP genotyping analysis3128
essv5025118duplicationNA20520SNP arraySNP genotyping analysis3137
essv5034744duplicationNA12154SNP arraySNP genotyping analysis3131
essv5038355duplicationNA19705SNP arraySNP genotyping analysis3154
essv5038521duplicationNA10865SNP arraySNP genotyping analysis3130
essv5042342duplicationNA19658SNP arraySNP genotyping analysis3124
essv5043847duplicationNA07037SNP arraySNP genotyping analysis3124
essv5047660duplicationNA20766SNP arraySNP genotyping analysis3133
essv5052269duplicationNA12874SNP arraySNP genotyping analysis3141
essv5052360duplicationNA10830SNP arraySNP genotyping analysis3123
essv5056960duplicationNA11893SNP arraySNP genotyping analysis3127
essv5057955duplicationNA19704SNP arraySNP genotyping analysis3134
essv5061428duplicationNA12343SNP arraySNP genotyping analysis3125
essv5063976duplicationNA20786SNP arraySNP genotyping analysis3134
essv5064677duplicationNA20802SNP arraySNP genotyping analysis3116
essv5067720duplicationNA12383SNP arraySNP genotyping analysis3119
essv5071075duplicationNA20538SNP arraySNP genotyping analysis3132
essv5071894duplicationNA07022SNP arraySNP genotyping analysis3142
essv5075567duplicationNA12336SNP arraySNP genotyping analysis3120
essv5075624duplicationNA20342SNP arraySNP genotyping analysis3140
essv5083038duplicationNA12750SNP arraySNP genotyping analysis3141
essv5083146duplicationNA20775SNP arraySNP genotyping analysis3125
essv5083876duplicationNA10856SNP arraySNP genotyping analysis3129
essv5086342duplicationNA12865SNP arraySNP genotyping analysis3136
essv5089518duplicationNA20850SNP arraySNP genotyping analysis3125
essv5091657duplicationNA12275SNP arraySNP genotyping analysis3148
essv5093812duplicationNA11829SNP arraySNP genotyping analysis3133
essv5094886duplicationNA20505SNP arraySNP genotyping analysis3133
essv5095972duplicationNA10835SNP arraySNP genotyping analysis3135
essv5105784duplicationNA20795SNP arraySNP genotyping analysis4135
essv5107422duplicationNA11891SNP arraySNP genotyping analysis3127
essv5110264duplicationNA19763SNP arraySNP genotyping analysis3125
essv5111368duplicationNA12815SNP arraySNP genotyping analysis3137
essv5111623duplicationNA11894SNP arraySNP genotyping analysis3122
essv5112160duplicationNA19917SNP arraySNP genotyping analysis3152
essv5118325duplicationNA20890SNP arraySNP genotyping analysis3136
essv5127223duplicationNA20774SNP arraySNP genotyping analysis3132
essv5127617duplicationNA11995SNP arraySNP genotyping analysis3132
essv5128569duplicationNA19657SNP arraySNP genotyping analysis3128
essv5131219duplicationNA19918SNP arraySNP genotyping analysis3136
essv5136398duplicationNA20815SNP arraySNP genotyping analysis3126
essv5138621duplicationNA19761SNP arraySNP genotyping analysis3131
essv5149036duplicationNA12749SNP arraySNP genotyping analysis3129
essv5157206duplicationNA12739SNP arraySNP genotyping analysis3119
essv5158168duplicationNA20807SNP arraySNP genotyping analysis3133
essv5159676duplicationNA20826SNP arraySNP genotyping analysis3140

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
essv5003505RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5004407RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5012274RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5025118RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5034744RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5038355RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5038521RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5042342RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5043847RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5047660RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5052269RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5052360RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5056960RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5057955RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5061428RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5063976RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5064677RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5067720RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5071075RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5071894RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5075567RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5075624RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5083038RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5083146RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5083876RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5086342RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5089518RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5091657RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5093812RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5094886RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5095972RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5105784RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5107422RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5110264RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5111368RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5111623RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5112160RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5118325RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5127223RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5127617RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5128569RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5131219RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5136398RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5138621RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5149036RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5157206RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5158168RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5159676RemappedPerfectNC_000002.12:g.(?_
227378594)_(227394
141_?)dup
GRCh38.p12First PassNC_000002.12Chr2227,378,594227,394,141
essv5003505RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5004407RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5012274RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5025118RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5034744RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5038355RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5038521RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5042342RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5043847RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5047660RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5052269RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5052360RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5056960RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5057955RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5061428RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5063976RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5064677RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5067720RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5071075RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5071894RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5075567RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5075624RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5083038RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5083146RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5083876RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5086342RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5089518RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5091657RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5093812RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5094886RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5095972RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5105784RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5107422RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5110264RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5111368RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5111623RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5112160RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5118325RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5127223RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5127617RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5128569RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5131219RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5136398RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5138621RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5149036RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5157206RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5158168RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5159676RemappedPerfectNC_000002.11:g.(?_
228243310)_(228258
857_?)dup
GRCh37.p13First PassNC_000002.11Chr2228,243,310228,258,857
essv5003505Submitted genomicNC_000002.10:g.(?_
227951554)_(227967
101_?)dup
NCBI36 (hg18)NC_000002.10Chr2227,951,554227,967,101
essv5004407Submitted genomicNC_000002.10:g.(?_
227951554)_(227967
101_?)dup
NCBI36 (hg18)NC_000002.10Chr2227,951,554227,967,101
essv5012274Submitted genomicNC_000002.10:g.(?_
227951554)_(227967
101_?)dup
NCBI36 (hg18)NC_000002.10Chr2227,951,554227,967,101
essv5025118Submitted genomicNC_000002.10:g.(?_
227951554)_(227967
101_?)dup
NCBI36 (hg18)NC_000002.10Chr2227,951,554227,967,101
Showing 100 of 144

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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