esv3887191

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: 162 SVs from 37 studies. See in: genome view

Remapped(Score: Perfect):24,706,020-24,706,020

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3887191	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
esv3887191	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	25,101,987	25,101,987

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25051986	sva insertion	HG01914	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,133
essv25051987	sva insertion	HG01985	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,789
essv25051988	sva insertion	HG02013	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,174
essv25051989	sva insertion	HG02223	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,201
essv25051990	sva insertion	HG02586	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,841
essv25051991	sva insertion	HG02611	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,051
essv25051992	sva insertion	HG02757	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,898
essv25051993	sva insertion	HG02759	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,148
essv25051994	sva insertion	HG02810	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,955
essv25051995	sva insertion	HG02816	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,816
essv25051996	sva insertion	HG02922	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,081
essv25051997	sva insertion	HG03024	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,781
essv25051998	sva insertion	HG03046	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,832
essv25051999	sva insertion	HG03091	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,965
essv25052000	sva insertion	HG03095	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,044
essv25052001	sva insertion	HG03157	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,109
essv25052002	sva insertion	HG03419	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,686
essv25052003	sva insertion	HG03520	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,182
essv25052004	sva insertion	NA18517	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,021
essv25052005	sva insertion	NA18908	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,270
essv25052006	sva insertion	NA19043	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,123
essv25052007	sva insertion	NA19113	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,015
essv25052008	sva insertion	NA19129	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,021
essv25052009	sva insertion	NA19147	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,969
essv25052010	sva insertion	NA19239	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,426
essv25052011	sva insertion	NA19346	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,048
essv25052012	sva insertion	NA19429	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,892
essv25052013	sva insertion	NA19434	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,500
essv25052014	sva insertion	NA19454	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,986
essv25052015	sva insertion	NA19475	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,150
essv25052016	sva insertion	NA19904	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,010
essv25052017	sva insertion	NA19908	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,927

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25051986	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25051987	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25051988	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25051989	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25051990	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25051991	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25051992	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25051993	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25051994	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25051995	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25051996	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25051997	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25051998	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25051999	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25052000	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25052001	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25052002	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25052003	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25052004	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25052005	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25052006	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25052007	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25052008	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25052009	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25052010	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25052011	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25052012	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25052013	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25052014	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25052015	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25052016	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25052017	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins1 402	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv25051986	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25051987	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25051988	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25051989	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25051990	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25051991	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25051992	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25051993	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25051994	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25051995	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25051996	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25051997	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25051998	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25051999	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25052000	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25052001	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25052002	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25052003	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25052004	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25052005	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25052006	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25052007	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25052008	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25052009	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25052010	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25052011	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25052012	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25052013	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25052014	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25052015	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25052016	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv25052017	Submitted genomic		NC_000022.10:g.251 01987_25101988ins1 402	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987

dbVar

Database of genomic structural variation

esv3887191

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.