U.S. flag

An official website of the United States government

esv2421373

  • Variant Calls:39
  • Validation:Not tested
  • Clinical Assertions: No
  • Region Size:8,251

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 186 SVs from 43 studies. See in: genome view    
Remapped(Score: Perfect):61,808,789-61,817,039Question Mark
Overlapping variant regions from other studies: 186 SVs from 43 studies. See in: genome view    
Remapped(Score: Perfect):62,202,570-62,210,820Question Mark
Overlapping variant regions from other studies: 37 SVs from 15 studies. See in: genome view    
Submitted genomic60,488,837-60,497,087Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
esv2421373RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000012.12Chr1261,808,78961,817,039
esv2421373RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000012.11Chr1262,202,57062,210,820
esv2421373Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000012.10Chr1260,488,83760,497,087

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisCopy numberOther Calls in this Sample and Study
essv5004937deletionNA20349SNP arraySNP genotyping analysis1131
essv5005748deletionNA19151SNP arraySNP genotyping analysis1146
essv5005972deletionNA18911SNP arraySNP genotyping analysis1158
essv5007871deletionNA18909SNP arraySNP genotyping analysis1151
essv5012374deletionNA20357SNP arraySNP genotyping analysis1161
essv5018562deletionNA18854SNP arraySNP genotyping analysis1164
essv5026475deletionNA19197SNP arraySNP genotyping analysis1165
essv5026799deletionNA19376SNP arraySNP genotyping analysis0142
essv5031838deletionNA19198SNP arraySNP genotyping analysis1146
essv5033108deletionNA19375SNP arraySNP genotyping analysis1155
essv5037323deletionNA20350SNP arraySNP genotyping analysis1135
essv5040370deletionNA19470SNP arraySNP genotyping analysis1137
essv5047524deletionNA18916SNP arraySNP genotyping analysis1148
essv5047967deletionNA19215SNP arraySNP genotyping analysis1147
essv5049728deletionNA19149SNP arraySNP genotyping analysis1143
essv5052642deletionNA21574SNP arraySNP genotyping analysis1135
essv5052672deletionNA19172SNP arraySNP genotyping analysis1146
essv5054727deletionNA19214SNP arraySNP genotyping analysis1137
essv5059417deletionNA19457SNP arraySNP genotyping analysis1153
essv5062968deletionNA18852SNP arraySNP genotyping analysis0136
essv5063855deletionNA19904SNP arraySNP genotyping analysis1146
essv5069950deletionNA18917SNP arraySNP genotyping analysis1143
essv5073034deletionNA19909SNP arraySNP genotyping analysis1142
essv5081291deletionNA19199SNP arraySNP genotyping analysis1156
essv5082614deletionNA19334SNP arraySNP genotyping analysis1125
essv5088273deletionNA19472SNP arraySNP genotyping analysis1137
essv5088586deletionNA19917SNP arraySNP genotyping analysis1152
essv5091228deletionNA19171SNP arraySNP genotyping analysis1148
essv5091237deletionNA21575SNP arraySNP genotyping analysis1136
essv5093980deletionNA19317SNP arraySNP genotyping analysis1145
essv5101994deletionNA20291SNP arraySNP genotyping analysis1115
essv5111881deletionNA19141SNP arraySNP genotyping analysis1141
essv5118632deletionNA19200SNP arraySNP genotyping analysis1140
essv5121239deletionNA21415SNP arraySNP genotyping analysis1153
essv5130246deletionNA19248SNP arraySNP genotyping analysis1145
essv5136462deletionNA19919SNP arraySNP genotyping analysis1157
essv5144092deletionNA19428SNP arraySNP genotyping analysis1145
essv5146250deletionNA19173SNP arraySNP genotyping analysis1135
essv5149069deletionNA19131SNP arraySNP genotyping analysis1137

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
essv5004937RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5005748RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5005972RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5007871RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5012374RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5018562RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5026475RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5026799RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5031838RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5033108RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5037323RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5040370RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5047524RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5047967RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5049728RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5052642RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5052672RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5054727RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5059417RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5062968RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5063855RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5069950RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5073034RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5081291RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5082614RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5088273RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5088586RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5091228RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5091237RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5093980RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5101994RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5111881RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5118632RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5121239RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5130246RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5136462RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5144092RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5146250RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5149069RemappedPerfectNC_000012.12:g.(?_
61808789)_(6181703
9_?)del
GRCh38.p12First PassNC_000012.12Chr1261,808,78961,817,039
essv5004937RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5005748RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5005972RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5007871RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5012374RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5018562RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5026475RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5026799RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5031838RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5033108RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5037323RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5040370RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5047524RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5047967RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5049728RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5052642RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5052672RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5054727RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5059417RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5062968RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5063855RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5069950RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5073034RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5081291RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5082614RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5088273RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5088586RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5091228RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5091237RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5093980RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5101994RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5111881RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5118632RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5121239RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5130246RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5136462RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5144092RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5146250RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5149069RemappedPerfectNC_000012.11:g.(?_
62202570)_(6221082
0_?)del
GRCh37.p13First PassNC_000012.11Chr1262,202,57062,210,820
essv5004937Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
essv5005748Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
essv5005972Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
essv5007871Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
essv5012374Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
essv5018562Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
essv5026475Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
essv5026799Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
essv5031838Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
essv5033108Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
essv5037323Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
essv5040370Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
essv5047524Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
essv5047967Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
essv5049728Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
essv5052642Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
essv5052672Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
essv5054727Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
essv5059417Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
essv5062968Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
essv5063855Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
essv5069950Submitted genomicNC_000012.10:g.(?_
60488837)_(6049708
7_?)del
NCBI36 (hg18)NC_000012.10Chr1260,488,83760,497,087
Showing 100 of 117

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

Support Center