esv3890623

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:40
Validation:Not tested
Clinical Assertions: No
Region Size:1

Publication(s):1000 Genomes Project Consortium et al. 2015

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 120 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):9,750,455-9,750,455

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3890623	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
esv3890623	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	9,903,051	9,903,051

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25778150	mobile element insertion	SAMN01091133	Sequencing	Read depth and paired-end mapping	Homozygous	2,963
essv25778151	mobile element insertion	SAMN00255125	Sequencing	Read depth and paired-end mapping	Homozygous	3,547
essv25778152	mobile element insertion	SAMN00630198	Sequencing	Read depth and paired-end mapping	Homozygous	3,096
essv25778153	mobile element insertion	SAMN00630200	Sequencing	Read depth and paired-end mapping	Homozygous	3,059
essv25778154	mobile element insertion	SAMN00262971	Sequencing	Read depth and paired-end mapping	Homozygous	3,221
essv25778155	mobile element insertion	SAMN00262974	Sequencing	Read depth and paired-end mapping	Homozygous	3,255
essv25778156	mobile element insertion	SAMN00630238	Sequencing	Read depth and paired-end mapping	Homozygous	2,511
essv25778157	mobile element insertion	SAMN01091043	Sequencing	Read depth and paired-end mapping	Homozygous	2,937
essv25778158	mobile element insertion	SAMN00630244	Sequencing	Read depth and paired-end mapping	Homozygous	2,890
essv25778159	mobile element insertion	SAMN01091046	Sequencing	Read depth and paired-end mapping	Homozygous	3,078
essv25778160	mobile element insertion	SAMN01091056	Sequencing	Read depth and paired-end mapping	Homozygous	3,207
essv25778161	mobile element insertion	SAMN00779942	Sequencing	Read depth and paired-end mapping	Homozygous	3,199
essv25778162	mobile element insertion	SAMN00779970	Sequencing	Read depth and paired-end mapping	Homozygous	3,154
essv25778163	mobile element insertion	SAMN00779984	Sequencing	Read depth and paired-end mapping	Homozygous	3,185
essv25778164	mobile element insertion	SAMN00779987	Sequencing	Read depth and paired-end mapping	Homozygous	3,263
essv25778165	mobile element insertion	SAMN01090776	Sequencing	Read depth and paired-end mapping	Homozygous	3,137
essv25778166	mobile element insertion	SAMN01036779	Sequencing	Read depth and paired-end mapping	Homozygous	3,152
essv25778167	mobile element insertion	SAMN01761235	Sequencing	Read depth and paired-end mapping	Homozygous	3,251
essv25778168	mobile element insertion	SAMN01090797	Sequencing	Read depth and paired-end mapping	Homozygous	2,871
essv25778169	mobile element insertion	SAMN01090772	Sequencing	Read depth and paired-end mapping	Homozygous	3,143
essv25778170	mobile element insertion	SAMN01761243	Sequencing	Read depth and paired-end mapping	Homozygous	3,270
essv25778171	mobile element insertion	SAMN01761292	Sequencing	Read depth and paired-end mapping	Homozygous	3,255
essv25778172	mobile element insertion	SAMN01036822	Sequencing	Read depth and paired-end mapping	Homozygous	3,231
essv25778173	mobile element insertion	SAMN01090886	Sequencing	Read depth and paired-end mapping	Homozygous	3,245
essv25778174	mobile element insertion	SAMN01090775	Sequencing	Read depth and paired-end mapping	Homozygous	3,054
essv25778175	mobile element insertion	SAMN01090841	Sequencing	Read depth and paired-end mapping	Homozygous	2,952
essv25778176	mobile element insertion	SAMN01761322	Sequencing	Read depth and paired-end mapping	Homozygous	3,259
essv25778177	mobile element insertion	SAMN01090818	Sequencing	Read depth and paired-end mapping	Homozygous	3,288
essv25778178	mobile element insertion	SAMN01090838	Sequencing	Read depth and paired-end mapping	Homozygous	3,045
essv25778179	mobile element insertion	SAMN01090817	Sequencing	Read depth and paired-end mapping	Homozygous	3,060
essv25778180	mobile element insertion	SAMN01090822	Sequencing	Read depth and paired-end mapping	Homozygous	3,090
essv25778181	mobile element insertion	SAMN01090825	Sequencing	Read depth and paired-end mapping	Homozygous	3,024
essv25778182	mobile element insertion	SAMN00001022	Sequencing	Read depth and paired-end mapping	Homozygous	3,306
essv25778183	mobile element insertion	SAMN00001630	Sequencing	Read depth and paired-end mapping	Homozygous	3,334
essv25778184	mobile element insertion	SAMN00000479	Sequencing	Read depth and paired-end mapping	Homozygous	3,240
essv25778185	mobile element insertion	SAMN00001675	Sequencing	Read depth and paired-end mapping	Homozygous	2,942
essv25778186	mobile element insertion	SAMN00000557	Sequencing	Read depth and paired-end mapping	Homozygous	2,838
essv25778187	mobile element insertion	SAMN00001686	Sequencing	Read depth and paired-end mapping	Homozygous	2,632
essv25778188	mobile element insertion	SAMN00000574	Sequencing	Read depth and paired-end mapping	Homozygous	3,099
essv25778189	mobile element insertion	SAMN00007700	Sequencing	Read depth and paired-end mapping	Homozygous	3,096

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25778150	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778151	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778152	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778153	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778154	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778155	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778156	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778157	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778158	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778159	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778160	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778161	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778162	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778163	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778164	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778165	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778166	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778167	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778168	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778169	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778170	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778171	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778172	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778173	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778174	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778175	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778176	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778177	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778178	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778179	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778180	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778181	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778182	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778183	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778184	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778185	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778186	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778187	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778188	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778189	Remapped	Perfect	NC_000012.12:g.975 0455_9750456ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,750,455	9,750,455
essv25778150	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778151	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778152	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778153	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778154	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778155	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778156	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778157	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778158	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778159	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778160	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778161	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778162	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778163	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778164	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778165	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778166	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778167	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778168	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778169	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778170	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778171	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778172	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778173	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778174	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778175	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778176	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778177	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778178	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778179	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778180	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778181	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778182	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778183	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778184	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778185	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778186	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778187	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778188	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051
essv25778189	Submitted genomic		NC_000012.11:g.990 3051_9903052ins?	GRCh37 (hg19)		NC_000012.11	Chr12	9,903,051	9,903,051

dbVar

Database of genomic structural variation

esv3890623

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.