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esv2421742

  • Variant Calls:48
  • Validation:Not tested
  • Clinical Assertions: No
  • Region Size:4,663

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 149 SVs from 42 studies. See in: genome view    
Remapped(Score: Perfect):78,694,603-78,699,265Question Mark
Overlapping variant regions from other studies: 149 SVs from 42 studies. See in: genome view    
Remapped(Score: Perfect):79,160,946-79,165,608Question Mark
Overlapping variant regions from other studies: 48 SVs from 11 studies. See in: genome view    
Submitted genomic78,230,699-78,235,361Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
esv2421742RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000014.9Chr1478,694,60378,699,265
esv2421742RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000014.8Chr1479,160,94679,165,608
esv2421742Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000014.7Chr1478,230,69978,235,361

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisCopy numberOther Calls in this Sample and Study
essv5005048deletionNA21768SNP arraySNP genotyping analysis1140
essv5008992deletionNA21370SNP arraySNP genotyping analysis1135
essv5012080deletionNA21385SNP arraySNP genotyping analysis1135
essv5023112deletionNA11920SNP arraySNP genotyping analysis1121
essv5026954deletionNA21487SNP arraySNP genotyping analysis1140
essv5026957deletionNA21313SNP arraySNP genotyping analysis1140
essv5028024deletionNA21438SNP arraySNP genotyping analysis1137
essv5031181deletionNA21405SNP arraySNP genotyping analysis0139
essv5039546deletionNA21493SNP arraySNP genotyping analysis1142
essv5041083deletionNA21314SNP arraySNP genotyping analysis1134
essv5043357deletionNA19448SNP arraySNP genotyping analysis1142
essv5044206deletionNA21524SNP arraySNP genotyping analysis1149
essv5054566deletionNA21573SNP arraySNP genotyping analysis1145
essv5057431deletionNA10861SNP arraySNP genotyping analysis1123
essv5058525deletionNA21486SNP arraySNP genotyping analysis1131
essv5059361deletionNA21390SNP arraySNP genotyping analysis1148
essv5061239deletionNA20505SNP arraySNP genotyping analysis1133
essv5065176deletionNA21577SNP arraySNP genotyping analysis1139
essv5066504deletionNA20333SNP arraySNP genotyping analysis1146
essv5070114deletionNA21367SNP arraySNP genotyping analysis1141
essv5072445deletionNA21439SNP arraySNP genotyping analysis1146
essv5075229deletionNA21494SNP arraySNP genotyping analysis1156
essv5079330deletionNA21312SNP arraySNP genotyping analysis1129
essv5086255deletionNA20332SNP arraySNP genotyping analysis1143
essv5087536deletionNA21386SNP arraySNP genotyping analysis1141
essv5087786deletionNA21527SNP arraySNP genotyping analysis1133
essv5094852deletionNA21613SNP arraySNP genotyping analysis1149
essv5096013deletionNA11917SNP arraySNP genotyping analysis1133
essv5101620deletionNA21525SNP arraySNP genotyping analysis1150
essv5102439deletionNA20797SNP arraySNP genotyping analysis1129
essv5102951deletionNA21436SNP arraySNP genotyping analysis1143
essv5105802deletionNA19309SNP arraySNP genotyping analysis1123
essv5106561deletionNA21318SNP arraySNP genotyping analysis1118
essv5113568deletionNA11995SNP arraySNP genotyping analysis1132
essv5123467deletionNA19036SNP arraySNP genotyping analysis1151
essv5123690deletionNA20588SNP arraySNP genotyping analysis1125
essv5134127deletionNA19028SNP arraySNP genotyping analysis1131
essv5134260deletionNA21339SNP arraySNP genotyping analysis1143
essv5135990deletionNA21417SNP arraySNP genotyping analysis1138
essv5139600deletionNA21311SNP arraySNP genotyping analysis1132
essv5140795deletionNA21414SNP arraySNP genotyping analysis1141
essv5144743deletionNA21379SNP arraySNP genotyping analysis1145
essv5145738deletionNA19375SNP arraySNP genotyping analysis1155
essv5152914deletionNA21576SNP arraySNP genotyping analysis1149
essv5152988deletionNA21300SNP arraySNP genotyping analysis1147
essv5155122deletionNA10843SNP arraySNP genotyping analysis1132
essv5159095deletionNA07022SNP arraySNP genotyping analysis1142
essv5159535deletionNA21526SNP arraySNP genotyping analysis1144

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
essv5005048RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5008992RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5012080RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5023112RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5026954RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5026957RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5028024RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5031181RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5039546RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5041083RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5043357RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5044206RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5054566RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5057431RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5058525RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5059361RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5061239RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5065176RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5066504RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5070114RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5072445RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5075229RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5079330RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5086255RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5087536RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5087786RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5094852RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5096013RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5101620RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5102439RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5102951RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5105802RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5106561RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5113568RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5123467RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5123690RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5134127RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5134260RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5135990RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5139600RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5140795RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5144743RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5145738RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5152914RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5152988RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5155122RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5159095RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5159535RemappedPerfectNC_000014.9:g.(?_7
8694603)_(78699265
_?)del
GRCh38.p12First PassNC_000014.9Chr1478,694,60378,699,265
essv5005048RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5008992RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5012080RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5023112RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5026954RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5026957RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5028024RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5031181RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5039546RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5041083RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5043357RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5044206RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5054566RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5057431RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5058525RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5059361RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5061239RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5065176RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5066504RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5070114RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5072445RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5075229RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5079330RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5086255RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5087536RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5087786RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5094852RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5096013RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5101620RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5102439RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5102951RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5105802RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5106561RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5113568RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5123467RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5123690RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5134127RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5134260RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5135990RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5139600RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5140795RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5144743RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5145738RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5152914RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5152988RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5155122RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5159095RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5159535RemappedPerfectNC_000014.8:g.(?_7
9160946)_(79165608
_?)del
GRCh37.p13First PassNC_000014.8Chr1479,160,94679,165,608
essv5005048Submitted genomicNC_000014.7:g.(?_7
8230699)_(78235361
_?)del
NCBI36 (hg18)NC_000014.7Chr1478,230,69978,235,361
essv5008992Submitted genomicNC_000014.7:g.(?_7
8230699)_(78235361
_?)del
NCBI36 (hg18)NC_000014.7Chr1478,230,69978,235,361
essv5012080Submitted genomicNC_000014.7:g.(?_7
8230699)_(78235361
_?)del
NCBI36 (hg18)NC_000014.7Chr1478,230,69978,235,361
essv5023112Submitted genomicNC_000014.7:g.(?_7
8230699)_(78235361
_?)del
NCBI36 (hg18)NC_000014.7Chr1478,230,69978,235,361
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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