esv3889827

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:26
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: 418 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):114,644,568-114,644,568

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3889827	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
esv3889827	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	113,879,043	113,879,043

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25556382	line1 insertion	HG01052	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,390
essv25556383	line1 insertion	HG01136	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,744
essv25556384	line1 insertion	HG01242	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,454
essv25556385	line1 insertion	HG01498	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,805
essv25556386	line1 insertion	HG02308	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,862
essv25556387	line1 insertion	HG02334	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,071
essv25556388	line1 insertion	HG02675	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,193
essv25556389	line1 insertion	HG02882	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,053
essv25556390	line1 insertion	HG02922	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,081
essv25556391	line1 insertion	HG03057	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,087
essv25556392	line1 insertion	HG03078	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,104
essv25556393	line1 insertion	HG03095	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,044
essv25556394	line1 insertion	HG03112	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,190
essv25556395	line1 insertion	HG03135	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,987
essv25556396	line1 insertion	HG03300	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,515
essv25556397	line1 insertion	NA18505	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,059
essv25556398	line1 insertion	NA18511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,939
essv25556399	line1 insertion	NA18517	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,021
essv25556400	line1 insertion	NA18907	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,088
essv25556401	line1 insertion	NA19023	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,953
essv25556402	line1 insertion	NA19099	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Homozygous	4,102
essv25556403	line1 insertion	NA19248	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,978
essv25556404	line1 insertion	NA19440	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,830
essv25556405	line1 insertion	NA19467	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,649
essv25556406	line1 insertion	NA19700	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,963
essv25556407	line1 insertion	NA19982	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,130

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25556382	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556383	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556384	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556385	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556386	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556387	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556388	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556389	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556390	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556391	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556392	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556393	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556394	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556395	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556396	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556397	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556398	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556399	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556400	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556401	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556402	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556403	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556404	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556405	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556406	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556407	Remapped	Perfect	NC_000023.11:g.114 644568_114644569in s418	GRCh38.p12	First Pass	NC_000023.11	ChrX	114,644,568	114,644,568
essv25556382	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556383	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556384	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556385	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556386	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556387	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556388	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556389	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556390	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556391	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556392	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556393	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556394	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556395	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556396	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556397	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556398	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556399	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556400	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556401	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556402	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556403	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556404	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556405	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556406	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043
essv25556407	Submitted genomic		NC_000023.10:g.113 879043_113879044in s418	GRCh37 (hg19)		NC_000023.10	ChrX	113,879,043	113,879,043

dbVar

Database of genomic structural variation

esv3889827

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.