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dbVar

Database of genomic structural variation

esv3646852

Organism: Homo sapiens

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

Variant Calls:7
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: 250 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):31,236,513-31,236,513

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3646852	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	31,236,513	31,236,513
esv3646852	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	32,608,829	32,608,829

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16311884	line1 insertion	SAMN00630210	Sequencing	Read depth and paired-end mapping	Heterozygous	3,134
essv16311885	line1 insertion	SAMN00779979	Sequencing	Read depth and paired-end mapping	Heterozygous	3,212
essv16311886	line1 insertion	SAMN01090764	Sequencing	Read depth and paired-end mapping	Heterozygous	2,908
essv16311887	line1 insertion	SAMN01090847	Sequencing	Read depth and paired-end mapping	Heterozygous	3,095
essv16311888	line1 insertion	SAMN01036788	Sequencing	Read depth and paired-end mapping	Heterozygous	3,166
essv16311889	line1 insertion	SAMN00001579	Sequencing	Read depth and paired-end mapping	Heterozygous	3,047
essv16311890	line1 insertion	SAMN00007813	Sequencing	Read depth and paired-end mapping	Heterozygous	2,983

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16311884	Remapped	Perfect	NC_000021.9:g.3123 6513_31236514ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	31,236,513	31,236,513
essv16311885	Remapped	Perfect	NC_000021.9:g.3123 6513_31236514ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	31,236,513	31,236,513
essv16311886	Remapped	Perfect	NC_000021.9:g.3123 6513_31236514ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	31,236,513	31,236,513
essv16311887	Remapped	Perfect	NC_000021.9:g.3123 6513_31236514ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	31,236,513	31,236,513
essv16311888	Remapped	Perfect	NC_000021.9:g.3123 6513_31236514ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	31,236,513	31,236,513
essv16311889	Remapped	Perfect	NC_000021.9:g.3123 6513_31236514ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	31,236,513	31,236,513
essv16311890	Remapped	Perfect	NC_000021.9:g.3123 6513_31236514ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	31,236,513	31,236,513
essv16311884	Submitted genomic		NC_000021.8:g.3260 8829_32608830ins?	GRCh37 (hg19)		NC_000021.8	Chr21	32,608,829	32,608,829
essv16311885	Submitted genomic		NC_000021.8:g.3260 8829_32608830ins?	GRCh37 (hg19)		NC_000021.8	Chr21	32,608,829	32,608,829
essv16311886	Submitted genomic		NC_000021.8:g.3260 8829_32608830ins?	GRCh37 (hg19)		NC_000021.8	Chr21	32,608,829	32,608,829
essv16311887	Submitted genomic		NC_000021.8:g.3260 8829_32608830ins?	GRCh37 (hg19)		NC_000021.8	Chr21	32,608,829	32,608,829
essv16311888	Submitted genomic		NC_000021.8:g.3260 8829_32608830ins?	GRCh37 (hg19)		NC_000021.8	Chr21	32,608,829	32,608,829
essv16311889	Submitted genomic		NC_000021.8:g.3260 8829_32608830ins?	GRCh37 (hg19)		NC_000021.8	Chr21	32,608,829	32,608,829
essv16311890	Submitted genomic		NC_000021.8:g.3260 8829_32608830ins?	GRCh37 (hg19)		NC_000021.8	Chr21	32,608,829	32,608,829

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.

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