esv3885660

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:32
Validation:Not tested
Clinical Assertions: No
Region Size:1

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 100 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):48,961,703-48,961,703

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3885660	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
esv3885660	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	47,578,240	47,578,240

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24851973	sva insertion	HG00105	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,568
essv24851974	sva insertion	HG00258	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,495
essv24851975	sva insertion	HG00699	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,205
essv24851976	sva insertion	HG00737	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,164
essv24851977	sva insertion	HG02047	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,700
essv24851978	sva insertion	HG02075	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,497
essv24851979	sva insertion	HG02127	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,321
essv24851980	sva insertion	HG02649	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,474
essv24851981	sva insertion	HG03615	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,507
essv24851982	sva insertion	HG03616	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,585
essv24851983	sva insertion	HG03814	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,493
essv24851984	sva insertion	HG03899	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,677
essv24851985	sva insertion	HG04006	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,662
essv24851986	sva insertion	HG04096	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,645
essv24851987	sva insertion	HG04107	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,794
essv24851988	sva insertion	HG04209	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,433
essv24851989	sva insertion	NA12058	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,433
essv24851990	sva insertion	NA18599	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,511
essv24851991	sva insertion	NA18637	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,682
essv24851992	sva insertion	NA18966	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,609
essv24851993	sva insertion	NA18976	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,067
essv24851994	sva insertion	NA18978	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,381
essv24851995	sva insertion	NA18988	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,938
essv24851996	sva insertion	NA19054	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,359
essv24851997	sva insertion	NA19059	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,396
essv24851998	sva insertion	NA19065	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,340
essv24851999	sva insertion	NA19068	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,728
essv24852000	sva insertion	NA19716	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,327
essv24852001	sva insertion	NA20878	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,377
essv24852002	sva insertion	NA20884	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,688
essv24852003	sva insertion	NA21103	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,842
essv24852004	sva insertion	NA21127	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,746

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24851973	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851974	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851975	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851976	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851977	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851978	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851979	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851980	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851981	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851982	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851983	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851984	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851985	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851986	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851987	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851988	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851989	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851990	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851991	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851992	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851993	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851994	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851995	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851996	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851997	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851998	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851999	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24852000	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24852001	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24852002	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24852003	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24852004	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins2 69	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv24851973	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851974	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851975	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851976	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851977	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851978	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851979	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851980	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851981	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851982	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851983	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851984	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851985	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851986	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851987	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851988	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851989	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851990	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851991	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851992	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851993	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851994	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851995	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851996	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851997	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851998	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24851999	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24852000	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24852001	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24852002	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24852003	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv24852004	Submitted genomic		NC_000020.10:g.475 78240_47578241ins2 69	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240

dbVar

Database of genomic structural variation

esv3885660

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.