esv3647759

Organism: Homo sapiens

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

Variant Calls:29
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: 116 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):39,056,450-39,056,450

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3647759	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
esv3647759	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	39,452,455	39,452,455

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16427698	alu insertion	SAMN00004623	Sequencing	Read depth and paired-end mapping	Heterozygous	2,667
essv16427699	alu insertion	SAMN00009089	Sequencing	Read depth and paired-end mapping	Heterozygous	2,585
essv16427700	alu insertion	SAMN00006366	Sequencing	Read depth and paired-end mapping	Heterozygous	2,730
essv16427701	alu insertion	SAMN00006586	Sequencing	Read depth and paired-end mapping	Heterozygous	2,626
essv16427702	alu insertion	SAMN00009210	Sequencing	Read depth and paired-end mapping	Heterozygous	2,753
essv16427703	alu insertion	SAMN01091106	Sequencing	Read depth and paired-end mapping	Heterozygous	2,886
essv16427704	alu insertion	SAMN01091063	Sequencing	Read depth and paired-end mapping	Heterozygous	2,691
essv16427705	alu insertion	SAMN00249673	Sequencing	Read depth and paired-end mapping	Heterozygous	2,735
essv16427706	alu insertion	SAMN00014433	Sequencing	Read depth and paired-end mapping	Heterozygous	2,548
essv16427707	alu insertion	SAMN00249859	Sequencing	Read depth and paired-end mapping	Heterozygous	2,652
essv16427708	alu insertion	SAMN00249865	Sequencing	Read depth and paired-end mapping	Heterozygous	2,671
essv16427709	alu insertion	SAMN00249881	Sequencing	Read depth and paired-end mapping	Heterozygous	2,542
essv16427710	alu insertion	SAMN01761636	Sequencing	Read depth and paired-end mapping	Heterozygous	2,134
essv16427711	alu insertion	SAMN00263019	Sequencing	Read depth and paired-end mapping	Heterozygous	2,878
essv16427712	alu insertion	SAMN01761480	Sequencing	Read depth and paired-end mapping	Heterozygous	2,712
essv16427713	alu insertion	SAMN01091021	Sequencing	Read depth and paired-end mapping	Heterozygous	2,842
essv16427714	alu insertion	SAMN00800945	Sequencing	Read depth and paired-end mapping	Heterozygous	2,595
essv16427715	alu insertion	SAMN00801680	Sequencing	Read depth and paired-end mapping	Heterozygous	2,942
essv16427716	alu insertion	SAMN00801732	Sequencing	Read depth and paired-end mapping	Heterozygous	2,867
essv16427717	alu insertion	SAMN00801878	Sequencing	Read depth and paired-end mapping	Heterozygous	2,500
essv16427718	alu insertion	SAMN00007746	Sequencing	Read depth and paired-end mapping	Heterozygous	2,697
essv16427719	alu insertion	SAMN00007785	Sequencing	Read depth and paired-end mapping	Heterozygous	2,501
essv16427720	alu insertion	SAMN00001226	Sequencing	Read depth and paired-end mapping	Heterozygous	3,613
essv16427721	alu insertion	SAMN00001230	Sequencing	Read depth and paired-end mapping	Heterozygous	2,901
essv16427722	alu insertion	SAMN00001284	Sequencing	Read depth and paired-end mapping	Heterozygous	2,891
essv16427723	alu insertion	SAMN00001290	Sequencing	Read depth and paired-end mapping	Heterozygous	2,785
essv16427724	alu insertion	SAMN00001294	Sequencing	Read depth and paired-end mapping	Heterozygous	2,854
essv16427725	alu insertion	SAMN00001320	Sequencing	Read depth and paired-end mapping	Heterozygous	2,903
essv16427726	alu insertion	SAMN00001331	Sequencing	Read depth and paired-end mapping	Heterozygous	2,905

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16427698	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427699	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427700	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427701	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427702	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427703	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427704	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427705	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427706	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427707	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427708	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427709	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427710	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427711	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427712	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427713	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427714	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427715	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427716	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427717	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427718	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427719	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427720	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427721	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427722	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427723	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427724	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427725	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427726	Remapped	Perfect	NC_000022.11:g.390 56450_39056451ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	39,056,450	39,056,450
essv16427698	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427699	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427700	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427701	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427702	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427703	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427704	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427705	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427706	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427707	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427708	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427709	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427710	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427711	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427712	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427713	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427714	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427715	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427716	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427717	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427718	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427719	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427720	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427721	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427722	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427723	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427724	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427725	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455
essv16427726	Submitted genomic		NC_000022.10:g.394 52455_39452456ins?	GRCh37 (hg19)		NC_000022.10	Chr22	39,452,455	39,452,455

dbVar

Database of genomic structural variation

esv3647759

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.