U.S. flag

An official website of the United States government

esv2760621

  • Variant Calls:46
  • Validation:Not tested
  • Clinical Assertions: No
  • Region Size:125,646

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 930 SVs from 81 studies. See in: genome view    
Remapped(Score: Perfect):4,217,824-4,343,469Question Mark
Overlapping variant regions from other studies: 930 SVs from 81 studies. See in: genome view    
Remapped(Score: Perfect):4,239,054-4,364,699Question Mark
Overlapping variant regions from other studies: 259 SVs from 25 studies. See in: genome view    
Submitted genomic4,195,630-4,321,275Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartOuter Stop
esv2760621RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000011.10Chr114,217,8244,343,469
esv2760621RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000011.9Chr114,239,0544,364,699
esv2760621Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000011.8Chr114,195,6304,321,275

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisOther Calls in this Sample and Study
essv6995290copy number lossSW_0641SNP arraySNP genotyping analysis37
essv6995291copy number lossSW_0102SNP arraySNP genotyping analysis50
essv6995292copy number lossSW_0702SNP arraySNP genotyping analysis33
essv6995293copy number lossSW_1073SNP arraySNP genotyping analysis34
essv6995294copy number lossSW_1217SNP arraySNP genotyping analysis22
essv6995295copy number lossSW_1355SNP arraySNP genotyping analysis37
essv6995296copy number lossSW_1504SNP arraySNP genotyping analysis15
essv6995297copy number lossSW_0285SNP arraySNP genotyping analysis40
essv6995298copy number lossSW_1125SNP arraySNP genotyping analysis45
essv6995299copy number lossSW_0147SNP arraySNP genotyping analysis33
essv6995302copy number lossSW_0058SNP arraySNP genotyping analysis39
essv6995303copy number lossSW_0339SNP arraySNP genotyping analysis39
essv6995304copy number lossSW_0634SNP arraySNP genotyping analysis49
essv6995305copy number lossSW_1411SNP arraySNP genotyping analysis23
essv6995306copy number lossSW_1417SNP arraySNP genotyping analysis24
essv6995307copy number lossSW_0186SNP arraySNP genotyping analysis39
essv6995308copy number lossSW_0815SNP arraySNP genotyping analysis46
essv6995309copy number lossSW_0831SNP arraySNP genotyping analysis42
essv6995310copy number lossSW_1384SNP arraySNP genotyping analysis41
essv6995311copy number lossSW_0191SNP arraySNP genotyping analysis36
essv6995313copy number lossSW_0626SNP arraySNP genotyping analysis24
essv6995314copy number lossSW_0834SNP arraySNP genotyping analysis33
essv6995315copy number lossSW_1009SNP arraySNP genotyping analysis36
essv6995316copy number lossSW_1071SNP arraySNP genotyping analysis35
essv6995317copy number lossSW_1278SNP arraySNP genotyping analysis28
essv6995318copy number lossSW_1306SNP arraySNP genotyping analysis25
essv6995319copy number lossSW_1512SNP arraySNP genotyping analysis36
essv6995320copy number lossSW_1551SNP arraySNP genotyping analysis22
essv6995321copy number lossSW_1408SNP arraySNP genotyping analysis35
essv6995322copy number lossSW_1013SNP arraySNP genotyping analysis32
essv6995324copy number lossSW_0164SNP arraySNP genotyping analysis22
essv6995325copy number gainSW_1242SNP arraySNP genotyping analysis35
essv6995326copy number gainSW_1456SNP arraySNP genotyping analysis31
essv6995327copy number lossSW_1232SNP arraySNP genotyping analysis40
essv6995328copy number gainSW_1346SNP arraySNP genotyping analysis42
essv6995329copy number lossSW_0285SNP arraySNP genotyping analysis40
essv6995330copy number lossSW_1295SNP arraySNP genotyping analysis44
essv6995331copy number gainSW_0836SNP arraySNP genotyping analysis50
essv6995332copy number gainSW_0190SNP arraySNP genotyping analysis28
essv6995333copy number lossSW_0620SNP arraySNP genotyping analysis35
essv6995335copy number gainSW_0786SNP arraySNP genotyping analysis48
essv6995336copy number gainSW_1294SNP arraySNP genotyping analysis32
essv6995337copy number gainSW_1368SNP arraySNP genotyping analysis24
essv6995338copy number gainSW_1208SNP arraySNP genotyping analysis38
essv6995339copy number gainSW_1430SNP arraySNP genotyping analysis34
essv6995340copy number gainSW_1471SNP arraySNP genotyping analysis25

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
essv6995290RemappedPerfectNC_000011.10:g.(?_
4217824)_(4298484_
?)del
GRCh38.p12First PassNC_000011.10Chr114,217,8244,298,484
essv6995291RemappedPerfectNC_000011.10:g.(?_
4217824)_(4315299_
?)del
GRCh38.p12First PassNC_000011.10Chr114,217,8244,315,299
essv6995292RemappedPerfectNC_000011.10:g.(?_
4217824)_(4315299_
?)del
GRCh38.p12First PassNC_000011.10Chr114,217,8244,315,299
essv6995293RemappedPerfectNC_000011.10:g.(?_
4217824)_(4315299_
?)del
GRCh38.p12First PassNC_000011.10Chr114,217,8244,315,299
essv6995294RemappedPerfectNC_000011.10:g.(?_
4217824)_(4315299_
?)del
GRCh38.p12First PassNC_000011.10Chr114,217,8244,315,299
essv6995295RemappedPerfectNC_000011.10:g.(?_
4217824)_(4315299_
?)del
GRCh38.p12First PassNC_000011.10Chr114,217,8244,315,299
essv6995296RemappedPerfectNC_000011.10:g.(?_
4217824)_(4343469_
?)del
GRCh38.p12First PassNC_000011.10Chr114,217,8244,343,469
essv6995297RemappedPerfectNC_000011.10:g.(?_
4228783)_(4254903_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,254,903
essv6995298RemappedPerfectNC_000011.10:g.(?_
4228783)_(4254903_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,254,903
essv6995299RemappedPerfectNC_000011.10:g.(?_
4228783)_(4286769_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,286,769
essv6995302RemappedPerfectNC_000011.10:g.(?_
4228783)_(4298484_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,298,484
essv6995303RemappedPerfectNC_000011.10:g.(?_
4228783)_(4298484_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,298,484
essv6995304RemappedPerfectNC_000011.10:g.(?_
4228783)_(4298484_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,298,484
essv6995305RemappedPerfectNC_000011.10:g.(?_
4228783)_(4298484_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,298,484
essv6995306RemappedPerfectNC_000011.10:g.(?_
4228783)_(4298484_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,298,484
essv6995307RemappedPerfectNC_000011.10:g.(?_
4228783)_(4306942_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,306,942
essv6995308RemappedPerfectNC_000011.10:g.(?_
4228783)_(4306942_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,306,942
essv6995309RemappedPerfectNC_000011.10:g.(?_
4228783)_(4306942_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,306,942
essv6995310RemappedPerfectNC_000011.10:g.(?_
4228783)_(4306942_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,306,942
essv6995311RemappedPerfectNC_000011.10:g.(?_
4228783)_(4315299_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,315,299
essv6995313RemappedPerfectNC_000011.10:g.(?_
4228783)_(4315299_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,315,299
essv6995314RemappedPerfectNC_000011.10:g.(?_
4228783)_(4315299_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,315,299
essv6995315RemappedPerfectNC_000011.10:g.(?_
4228783)_(4315299_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,315,299
essv6995316RemappedPerfectNC_000011.10:g.(?_
4228783)_(4315299_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,315,299
essv6995317RemappedPerfectNC_000011.10:g.(?_
4228783)_(4315299_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,315,299
essv6995318RemappedPerfectNC_000011.10:g.(?_
4228783)_(4315299_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,315,299
essv6995319RemappedPerfectNC_000011.10:g.(?_
4228783)_(4315299_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,315,299
essv6995320RemappedPerfectNC_000011.10:g.(?_
4228783)_(4315299_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,315,299
essv6995321RemappedPerfectNC_000011.10:g.(?_
4228783)_(4325579_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,325,579
essv6995322RemappedPerfectNC_000011.10:g.(?_
4228783)_(4338058_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,338,058
essv6995324RemappedPerfectNC_000011.10:g.(?_
4228783)_(4343469_
?)del
GRCh38.p12First PassNC_000011.10Chr114,228,7834,343,469
essv6995325RemappedPerfectNC_000011.10:g.(?_
4228783)_(4343469_
?)dup
GRCh38.p12First PassNC_000011.10Chr114,228,7834,343,469
essv6995326RemappedPerfectNC_000011.10:g.(?_
4228783)_(4343469_
?)dup
GRCh38.p12First PassNC_000011.10Chr114,228,7834,343,469
essv6995327RemappedPerfectNC_000011.10:g.(?_
4234899)_(4343469_
?)del
GRCh38.p12First PassNC_000011.10Chr114,234,8994,343,469
essv6995328RemappedPerfectNC_000011.10:g.(?_
4240762)_(4343469_
?)dup
GRCh38.p12First PassNC_000011.10Chr114,240,7624,343,469
essv6995329RemappedPerfectNC_000011.10:g.(?_
4274526)_(4298484_
?)del
GRCh38.p12First PassNC_000011.10Chr114,274,5264,298,484
essv6995330RemappedPerfectNC_000011.10:g.(?_
4274526)_(4331751_
?)del
GRCh38.p12First PassNC_000011.10Chr114,274,5264,331,751
essv6995331RemappedPerfectNC_000011.10:g.(?_
4274526)_(4337579_
?)dup
GRCh38.p12First PassNC_000011.10Chr114,274,5264,337,579
essv6995332RemappedPerfectNC_000011.10:g.(?_
4274526)_(4338058_
?)dup
GRCh38.p12First PassNC_000011.10Chr114,274,5264,338,058
essv6995333RemappedPerfectNC_000011.10:g.(?_
4274526)_(4338058_
?)del
GRCh38.p12First PassNC_000011.10Chr114,274,5264,338,058
essv6995335RemappedPerfectNC_000011.10:g.(?_
4274526)_(4338058_
?)dup
GRCh38.p12First PassNC_000011.10Chr114,274,5264,338,058
essv6995336RemappedPerfectNC_000011.10:g.(?_
4274526)_(4338058_
?)dup
GRCh38.p12First PassNC_000011.10Chr114,274,5264,338,058
essv6995337RemappedPerfectNC_000011.10:g.(?_
4274526)_(4338058_
?)dup
GRCh38.p12First PassNC_000011.10Chr114,274,5264,338,058
essv6995338RemappedPerfectNC_000011.10:g.(?_
4274526)_(4343469_
?)dup
GRCh38.p12First PassNC_000011.10Chr114,274,5264,343,469
essv6995339RemappedPerfectNC_000011.10:g.(?_
4274526)_(4343469_
?)dup
GRCh38.p12First PassNC_000011.10Chr114,274,5264,343,469
essv6995340RemappedPerfectNC_000011.10:g.(?_
4298482)_(4338058_
?)dup
GRCh38.p12First PassNC_000011.10Chr114,298,4824,338,058
essv6995290RemappedPerfectNC_000011.9:g.(?_4
239054)_(4319714_?
)del
GRCh37.p13First PassNC_000011.9Chr114,239,0544,319,714
essv6995291RemappedPerfectNC_000011.9:g.(?_4
239054)_(4336529_?
)del
GRCh37.p13First PassNC_000011.9Chr114,239,0544,336,529
essv6995292RemappedPerfectNC_000011.9:g.(?_4
239054)_(4336529_?
)del
GRCh37.p13First PassNC_000011.9Chr114,239,0544,336,529
essv6995293RemappedPerfectNC_000011.9:g.(?_4
239054)_(4336529_?
)del
GRCh37.p13First PassNC_000011.9Chr114,239,0544,336,529
essv6995294RemappedPerfectNC_000011.9:g.(?_4
239054)_(4336529_?
)del
GRCh37.p13First PassNC_000011.9Chr114,239,0544,336,529
essv6995295RemappedPerfectNC_000011.9:g.(?_4
239054)_(4336529_?
)del
GRCh37.p13First PassNC_000011.9Chr114,239,0544,336,529
essv6995296RemappedPerfectNC_000011.9:g.(?_4
239054)_(4364699_?
)del
GRCh37.p13First PassNC_000011.9Chr114,239,0544,364,699
essv6995297RemappedPerfectNC_000011.9:g.(?_4
250013)_(4276133_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,276,133
essv6995298RemappedPerfectNC_000011.9:g.(?_4
250013)_(4276133_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,276,133
essv6995299RemappedPerfectNC_000011.9:g.(?_4
250013)_(4307999_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,307,999
essv6995302RemappedPerfectNC_000011.9:g.(?_4
250013)_(4319714_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,319,714
essv6995303RemappedPerfectNC_000011.9:g.(?_4
250013)_(4319714_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,319,714
essv6995304RemappedPerfectNC_000011.9:g.(?_4
250013)_(4319714_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,319,714
essv6995305RemappedPerfectNC_000011.9:g.(?_4
250013)_(4319714_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,319,714
essv6995306RemappedPerfectNC_000011.9:g.(?_4
250013)_(4319714_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,319,714
essv6995307RemappedPerfectNC_000011.9:g.(?_4
250013)_(4328172_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,328,172
essv6995308RemappedPerfectNC_000011.9:g.(?_4
250013)_(4328172_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,328,172
essv6995309RemappedPerfectNC_000011.9:g.(?_4
250013)_(4328172_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,328,172
essv6995310RemappedPerfectNC_000011.9:g.(?_4
250013)_(4328172_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,328,172
essv6995311RemappedPerfectNC_000011.9:g.(?_4
250013)_(4336529_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,336,529
essv6995313RemappedPerfectNC_000011.9:g.(?_4
250013)_(4336529_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,336,529
essv6995314RemappedPerfectNC_000011.9:g.(?_4
250013)_(4336529_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,336,529
essv6995315RemappedPerfectNC_000011.9:g.(?_4
250013)_(4336529_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,336,529
essv6995316RemappedPerfectNC_000011.9:g.(?_4
250013)_(4336529_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,336,529
essv6995317RemappedPerfectNC_000011.9:g.(?_4
250013)_(4336529_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,336,529
essv6995318RemappedPerfectNC_000011.9:g.(?_4
250013)_(4336529_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,336,529
essv6995319RemappedPerfectNC_000011.9:g.(?_4
250013)_(4336529_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,336,529
essv6995320RemappedPerfectNC_000011.9:g.(?_4
250013)_(4336529_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,336,529
essv6995321RemappedPerfectNC_000011.9:g.(?_4
250013)_(4346809_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,346,809
essv6995322RemappedPerfectNC_000011.9:g.(?_4
250013)_(4359288_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,359,288
essv6995324RemappedPerfectNC_000011.9:g.(?_4
250013)_(4364699_?
)del
GRCh37.p13First PassNC_000011.9Chr114,250,0134,364,699
essv6995325RemappedPerfectNC_000011.9:g.(?_4
250013)_(4364699_?
)dup
GRCh37.p13First PassNC_000011.9Chr114,250,0134,364,699
essv6995326RemappedPerfectNC_000011.9:g.(?_4
250013)_(4364699_?
)dup
GRCh37.p13First PassNC_000011.9Chr114,250,0134,364,699
essv6995327RemappedPerfectNC_000011.9:g.(?_4
256129)_(4364699_?
)del
GRCh37.p13First PassNC_000011.9Chr114,256,1294,364,699
essv6995328RemappedPerfectNC_000011.9:g.(?_4
261992)_(4364699_?
)dup
GRCh37.p13First PassNC_000011.9Chr114,261,9924,364,699
essv6995329RemappedPerfectNC_000011.9:g.(?_4
295756)_(4319714_?
)del
GRCh37.p13First PassNC_000011.9Chr114,295,7564,319,714
essv6995330RemappedPerfectNC_000011.9:g.(?_4
295756)_(4352981_?
)del
GRCh37.p13First PassNC_000011.9Chr114,295,7564,352,981
essv6995331RemappedPerfectNC_000011.9:g.(?_4
295756)_(4358809_?
)dup
GRCh37.p13First PassNC_000011.9Chr114,295,7564,358,809
essv6995332RemappedPerfectNC_000011.9:g.(?_4
295756)_(4359288_?
)dup
GRCh37.p13First PassNC_000011.9Chr114,295,7564,359,288
essv6995333RemappedPerfectNC_000011.9:g.(?_4
295756)_(4359288_?
)del
GRCh37.p13First PassNC_000011.9Chr114,295,7564,359,288
essv6995335RemappedPerfectNC_000011.9:g.(?_4
295756)_(4359288_?
)dup
GRCh37.p13First PassNC_000011.9Chr114,295,7564,359,288
essv6995336RemappedPerfectNC_000011.9:g.(?_4
295756)_(4359288_?
)dup
GRCh37.p13First PassNC_000011.9Chr114,295,7564,359,288
essv6995337RemappedPerfectNC_000011.9:g.(?_4
295756)_(4359288_?
)dup
GRCh37.p13First PassNC_000011.9Chr114,295,7564,359,288
essv6995338RemappedPerfectNC_000011.9:g.(?_4
295756)_(4364699_?
)dup
GRCh37.p13First PassNC_000011.9Chr114,295,7564,364,699
essv6995339RemappedPerfectNC_000011.9:g.(?_4
295756)_(4364699_?
)dup
GRCh37.p13First PassNC_000011.9Chr114,295,7564,364,699
essv6995340RemappedPerfectNC_000011.9:g.(?_4
319712)_(4359288_?
)dup
GRCh37.p13First PassNC_000011.9Chr114,319,7124,359,288
essv6995290Submitted genomicNC_000011.8:g.(?_4
195630)_(4276290_?
)del
NCBI36 (hg18)NC_000011.8Chr114,195,6304,276,290
essv6995291Submitted genomicNC_000011.8:g.(?_4
195630)_(4293105_?
)del
NCBI36 (hg18)NC_000011.8Chr114,195,6304,293,105
essv6995292Submitted genomicNC_000011.8:g.(?_4
195630)_(4293105_?
)del
NCBI36 (hg18)NC_000011.8Chr114,195,6304,293,105
essv6995293Submitted genomicNC_000011.8:g.(?_4
195630)_(4293105_?
)del
NCBI36 (hg18)NC_000011.8Chr114,195,6304,293,105
essv6995294Submitted genomicNC_000011.8:g.(?_4
195630)_(4293105_?
)del
NCBI36 (hg18)NC_000011.8Chr114,195,6304,293,105
essv6995295Submitted genomicNC_000011.8:g.(?_4
195630)_(4293105_?
)del
NCBI36 (hg18)NC_000011.8Chr114,195,6304,293,105
essv6995296Submitted genomicNC_000011.8:g.(?_4
195630)_(4321275_?
)del
NCBI36 (hg18)NC_000011.8Chr114,195,6304,321,275
essv6995297Submitted genomicNC_000011.8:g.(?_4
206589)_(4232709_?
)del
NCBI36 (hg18)NC_000011.8Chr114,206,5894,232,709
Showing 100 of 138

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