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dbVar

Database of genomic structural variation

esv3310411

Organism: Homo sapiens

Study:estd59 (1000 Genomes Consortium Pilot Project)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:NCBI36 (hg18)

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:1

Publication(s):1000 Genomes Project Consortium et al. 2010

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: 121 SVs from 37 studies. See in: genome view

Remapped(Score: Perfect):78,368,262-78,368,298

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3310411	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	78,368,280 (-18, +18)	78,368,280 (-18, +18)
esv3310411	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	79,289,434 (-18, +18)	79,289,434 (-18, +18)
esv3310411	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000004.10	Chr4	79,508,458 (-18, +18)	79,508,458 (-18, +18)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv7839817	mobile element insertion	SAMN00801888	Sequencing	Split read and paired-end mapping	69,298
essv7841290	mobile element insertion	SAMN00801914	Sequencing	Split read and paired-end mapping	26,039
essv7842251	mobile element insertion	SAMN00001696	Sequencing	Split read and paired-end mapping	44,056
essv7842983	mobile element insertion	SAMN00001695	Sequencing	Split read and paired-end mapping	37,049

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv7839817	Remapped	Perfect	NC_000004.12:g.(78 368262_78368298)_( 78368262_78368298) ins305	GRCh38.p12	First Pass	NC_000004.12	Chr4	78,368,280 (-18, +18)	78,368,280 (-18, +18)
essv7841290	Remapped	Perfect	NC_000004.12:g.(78 368262_78368298)_( 78368262_78368298) ins305	GRCh38.p12	First Pass	NC_000004.12	Chr4	78,368,280 (-18, +18)	78,368,280 (-18, +18)
essv7842251	Remapped	Perfect	NC_000004.12:g.(78 368262_78368298)_( 78368262_78368298) ins305	GRCh38.p12	First Pass	NC_000004.12	Chr4	78,368,280 (-18, +18)	78,368,280 (-18, +18)
essv7842983	Remapped	Perfect	NC_000004.12:g.(78 368262_78368298)_( 78368262_78368298) ins305	GRCh38.p12	First Pass	NC_000004.12	Chr4	78,368,280 (-18, +18)	78,368,280 (-18, +18)
essv7839817	Remapped	Perfect	NC_000004.11:g.(79 289416_79289452)_( 79289416_79289452) ins305	GRCh37.p13	First Pass	NC_000004.11	Chr4	79,289,434 (-18, +18)	79,289,434 (-18, +18)
essv7841290	Remapped	Perfect	NC_000004.11:g.(79 289416_79289452)_( 79289416_79289452) ins305	GRCh37.p13	First Pass	NC_000004.11	Chr4	79,289,434 (-18, +18)	79,289,434 (-18, +18)
essv7842251	Remapped	Perfect	NC_000004.11:g.(79 289416_79289452)_( 79289416_79289452) ins305	GRCh37.p13	First Pass	NC_000004.11	Chr4	79,289,434 (-18, +18)	79,289,434 (-18, +18)
essv7842983	Remapped	Perfect	NC_000004.11:g.(79 289416_79289452)_( 79289416_79289452) ins305	GRCh37.p13	First Pass	NC_000004.11	Chr4	79,289,434 (-18, +18)	79,289,434 (-18, +18)
essv7839817	Submitted genomic		NC_000004.10:g.(79 508440_79508476)_( 79508440_79508476) ins305	NCBI36 (hg18)		NC_000004.10	Chr4	79,508,458 (-18, +18)	79,508,458 (-18, +18)
essv7841290	Submitted genomic		NC_000004.10:g.(79 508440_79508476)_( 79508440_79508476) ins305	NCBI36 (hg18)		NC_000004.10	Chr4	79,508,458 (-18, +18)	79,508,458 (-18, +18)
essv7842251	Submitted genomic		NC_000004.10:g.(79 508440_79508476)_( 79508440_79508476) ins305	NCBI36 (hg18)		NC_000004.10	Chr4	79,508,458 (-18, +18)	79,508,458 (-18, +18)
essv7842983	Submitted genomic		NC_000004.10:g.(79 508440_79508476)_( 79508440_79508476) ins305	NCBI36 (hg18)		NC_000004.10	Chr4	79,508,458 (-18, +18)	79,508,458 (-18, +18)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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