esv3646735

Organism: Homo sapiens

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

Variant Calls:15
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: 261 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):26,455,277-26,455,277

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3646735	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	26,455,277	26,455,277
esv3646735	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	27,827,596	27,827,596

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16299969	line1 insertion	SAMN00014342	Sequencing	Read depth and paired-end mapping	Heterozygous	2,805
essv16299970	line1 insertion	SAMN00779930	Sequencing	Read depth and paired-end mapping	Heterozygous	3,244
essv16299971	line1 insertion	SAMN00779933	Sequencing	Read depth and paired-end mapping	Heterozygous	3,201
essv16299972	line1 insertion	SAMN00779954	Sequencing	Read depth and paired-end mapping	Heterozygous	3,099
essv16299973	line1 insertion	SAMN00779975	Sequencing	Read depth and paired-end mapping	Heterozygous	3,186
essv16299974	line1 insertion	SAMN01761210	Sequencing	Read depth and paired-end mapping	Heterozygous	3,236
essv16299975	line1 insertion	SAMN01036721	Sequencing	Read depth and paired-end mapping	Heterozygous	3,162
essv16299976	line1 insertion	SAMN01761219	Sequencing	Read depth and paired-end mapping	Heterozygous	3,298
essv16299977	line1 insertion	SAMN01761235	Sequencing	Read depth and paired-end mapping	Heterozygous	3,251
essv16299978	line1 insertion	SAMN01090843	Sequencing	Read depth and paired-end mapping	Heterozygous	3,001
essv16299979	line1 insertion	SAMN01761335	Sequencing	Read depth and paired-end mapping	Heterozygous	2,544
essv16299980	line1 insertion	SAMN00001147	Sequencing	Read depth and paired-end mapping	Heterozygous	3,043
essv16299981	line1 insertion	SAMN00001156	Sequencing	Read depth and paired-end mapping	Heterozygous	2,984
essv16299982	line1 insertion	SAMN00001162	Sequencing	Read depth and paired-end mapping	Heterozygous	2,775
essv16299983	line1 insertion	SAMN00007806	Sequencing	Read depth and paired-end mapping	Heterozygous	3,302

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16299969	Remapped	Perfect	NC_000021.9:g.2645 5277_26455278ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	26,455,277	26,455,277
essv16299970	Remapped	Perfect	NC_000021.9:g.2645 5277_26455278ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	26,455,277	26,455,277
essv16299971	Remapped	Perfect	NC_000021.9:g.2645 5277_26455278ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	26,455,277	26,455,277
essv16299972	Remapped	Perfect	NC_000021.9:g.2645 5277_26455278ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	26,455,277	26,455,277
essv16299973	Remapped	Perfect	NC_000021.9:g.2645 5277_26455278ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	26,455,277	26,455,277
essv16299974	Remapped	Perfect	NC_000021.9:g.2645 5277_26455278ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	26,455,277	26,455,277
essv16299975	Remapped	Perfect	NC_000021.9:g.2645 5277_26455278ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	26,455,277	26,455,277
essv16299976	Remapped	Perfect	NC_000021.9:g.2645 5277_26455278ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	26,455,277	26,455,277
essv16299977	Remapped	Perfect	NC_000021.9:g.2645 5277_26455278ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	26,455,277	26,455,277
essv16299978	Remapped	Perfect	NC_000021.9:g.2645 5277_26455278ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	26,455,277	26,455,277
essv16299979	Remapped	Perfect	NC_000021.9:g.2645 5277_26455278ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	26,455,277	26,455,277
essv16299980	Remapped	Perfect	NC_000021.9:g.2645 5277_26455278ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	26,455,277	26,455,277
essv16299981	Remapped	Perfect	NC_000021.9:g.2645 5277_26455278ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	26,455,277	26,455,277
essv16299982	Remapped	Perfect	NC_000021.9:g.2645 5277_26455278ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	26,455,277	26,455,277
essv16299983	Remapped	Perfect	NC_000021.9:g.2645 5277_26455278ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	26,455,277	26,455,277
essv16299969	Submitted genomic		NC_000021.8:g.2782 7596_27827597ins?	GRCh37 (hg19)		NC_000021.8	Chr21	27,827,596	27,827,596
essv16299970	Submitted genomic		NC_000021.8:g.2782 7596_27827597ins?	GRCh37 (hg19)		NC_000021.8	Chr21	27,827,596	27,827,596
essv16299971	Submitted genomic		NC_000021.8:g.2782 7596_27827597ins?	GRCh37 (hg19)		NC_000021.8	Chr21	27,827,596	27,827,596
essv16299972	Submitted genomic		NC_000021.8:g.2782 7596_27827597ins?	GRCh37 (hg19)		NC_000021.8	Chr21	27,827,596	27,827,596
essv16299973	Submitted genomic		NC_000021.8:g.2782 7596_27827597ins?	GRCh37 (hg19)		NC_000021.8	Chr21	27,827,596	27,827,596
essv16299974	Submitted genomic		NC_000021.8:g.2782 7596_27827597ins?	GRCh37 (hg19)		NC_000021.8	Chr21	27,827,596	27,827,596
essv16299975	Submitted genomic		NC_000021.8:g.2782 7596_27827597ins?	GRCh37 (hg19)		NC_000021.8	Chr21	27,827,596	27,827,596
essv16299976	Submitted genomic		NC_000021.8:g.2782 7596_27827597ins?	GRCh37 (hg19)		NC_000021.8	Chr21	27,827,596	27,827,596
essv16299977	Submitted genomic		NC_000021.8:g.2782 7596_27827597ins?	GRCh37 (hg19)		NC_000021.8	Chr21	27,827,596	27,827,596
essv16299978	Submitted genomic		NC_000021.8:g.2782 7596_27827597ins?	GRCh37 (hg19)		NC_000021.8	Chr21	27,827,596	27,827,596
essv16299979	Submitted genomic		NC_000021.8:g.2782 7596_27827597ins?	GRCh37 (hg19)		NC_000021.8	Chr21	27,827,596	27,827,596
essv16299980	Submitted genomic		NC_000021.8:g.2782 7596_27827597ins?	GRCh37 (hg19)		NC_000021.8	Chr21	27,827,596	27,827,596
essv16299981	Submitted genomic		NC_000021.8:g.2782 7596_27827597ins?	GRCh37 (hg19)		NC_000021.8	Chr21	27,827,596	27,827,596
essv16299982	Submitted genomic		NC_000021.8:g.2782 7596_27827597ins?	GRCh37 (hg19)		NC_000021.8	Chr21	27,827,596	27,827,596
essv16299983	Submitted genomic		NC_000021.8:g.2782 7596_27827597ins?	GRCh37 (hg19)		NC_000021.8	Chr21	27,827,596	27,827,596

dbVar

Database of genomic structural variation

esv3646735

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.