esv3890045

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:25
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: 429 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):128,478,706-128,478,706

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3890045	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
esv3890045	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	127,612,684	127,612,684

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25612950	alu insertion	HG01052	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,390
essv25612951	alu insertion	HG01086	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,523
essv25612952	alu insertion	HG01122	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,451
essv25612953	alu insertion	HG01437	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,571
essv25612954	alu insertion	HG01883	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,989
essv25612955	alu insertion	HG01958	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,843
essv25612956	alu insertion	HG02455	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,875
essv25612957	alu insertion	HG02577	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,617
essv25612958	alu insertion	HG02614	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,881
essv25612959	alu insertion	HG02820	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,622
essv25612960	alu insertion	HG02854	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,874
essv25612961	alu insertion	HG03058	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,870
essv25612962	alu insertion	HG03073	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,051
essv25612963	alu insertion	HG03079	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,021
essv25612964	alu insertion	HG03097	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,998
essv25612965	alu insertion	HG03139	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,152
essv25612966	alu insertion	HG03268	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,896
essv25612967	alu insertion	HG03419	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,686
essv25612968	alu insertion	HG03436	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,813
essv25612969	alu insertion	HG03485	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,662
essv25612970	alu insertion	NA18873	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,059
essv25612971	alu insertion	NA18970	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,526
essv25612972	alu insertion	NA19184	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,210
essv25612973	alu insertion	NA19467	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,649
essv25612974	alu insertion	NA20321	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,840

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25612950	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612951	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612952	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612953	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612954	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612955	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612956	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612957	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612958	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612959	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612960	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612961	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612962	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612963	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612964	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612965	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612966	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612967	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612968	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612969	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612970	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612971	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612972	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612973	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612974	Remapped	Perfect	NC_000023.11:g.128 478706_128478707in s280	GRCh38.p12	First Pass	NC_000023.11	ChrX	128,478,706	128,478,706
essv25612950	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612951	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612952	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612953	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612954	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612955	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612956	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612957	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612958	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612959	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612960	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612961	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612962	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612963	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612964	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612965	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612966	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612967	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612968	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612969	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612970	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612971	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612972	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612973	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684
essv25612974	Submitted genomic		NC_000023.10:g.127 612684_127612685in s280	GRCh37 (hg19)		NC_000023.10	ChrX	127,612,684	127,612,684

dbVar

Database of genomic structural variation

esv3890045

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.