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dbVar

Database of genomic structural variation

esv3309566

Organism: Homo sapiens

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

Variant Calls:5
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: 314 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):76,241,950-76,241,986

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3309566	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	76,241,968 (-18, +18)	76,241,968 (-18, +18)
esv3309566	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	73,953,923 (-18, +18)	73,953,923 (-18, +18)
esv3309566	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000018.8	Chr18	72,082,911 (-18, +18)	72,082,911 (-18, +18)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv7840420	mobile element insertion	SAMN00801888	Sequencing	Split read and paired-end mapping	69,298
essv7840688	mobile element insertion	SAMN00801912	Sequencing	Split read and paired-end mapping	25,841
essv7841084	mobile element insertion	SAMN00801914	Sequencing	Split read and paired-end mapping	26,039
essv7841598	mobile element insertion	SAMN00001696	Sequencing	Split read and paired-end mapping	44,056
essv7843378	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
essv7840420	Remapped	Perfect	NC_000018.10:g.(76 241950_76241986)_( 76241950_76241986) ins295	GRCh38.p12	First Pass	NC_000018.10	Chr18	76,241,968 (-18, +18)	76,241,968 (-18, +18)
essv7840688	Remapped	Perfect	NC_000018.10:g.(76 241950_76241986)_( 76241950_76241986) ins295	GRCh38.p12	First Pass	NC_000018.10	Chr18	76,241,968 (-18, +18)	76,241,968 (-18, +18)
essv7841084	Remapped	Perfect	NC_000018.10:g.(76 241950_76241986)_( 76241950_76241986) ins295	GRCh38.p12	First Pass	NC_000018.10	Chr18	76,241,968 (-18, +18)	76,241,968 (-18, +18)
essv7841598	Remapped	Perfect	NC_000018.10:g.(76 241950_76241986)_( 76241950_76241986) ins295	GRCh38.p12	First Pass	NC_000018.10	Chr18	76,241,968 (-18, +18)	76,241,968 (-18, +18)
essv7843378	Remapped	Perfect	NC_000018.10:g.(76 241950_76241986)_( 76241950_76241986) ins295	GRCh38.p12	First Pass	NC_000018.10	Chr18	76,241,968 (-18, +18)	76,241,968 (-18, +18)
essv7840420	Remapped	Perfect	NC_000018.9:g.(739 53905_73953941)_(7 3953905_73953941)i ns295	GRCh37.p13	First Pass	NC_000018.9	Chr18	73,953,923 (-18, +18)	73,953,923 (-18, +18)
essv7840688	Remapped	Perfect	NC_000018.9:g.(739 53905_73953941)_(7 3953905_73953941)i ns295	GRCh37.p13	First Pass	NC_000018.9	Chr18	73,953,923 (-18, +18)	73,953,923 (-18, +18)
essv7841084	Remapped	Perfect	NC_000018.9:g.(739 53905_73953941)_(7 3953905_73953941)i ns295	GRCh37.p13	First Pass	NC_000018.9	Chr18	73,953,923 (-18, +18)	73,953,923 (-18, +18)
essv7841598	Remapped	Perfect	NC_000018.9:g.(739 53905_73953941)_(7 3953905_73953941)i ns295	GRCh37.p13	First Pass	NC_000018.9	Chr18	73,953,923 (-18, +18)	73,953,923 (-18, +18)
essv7843378	Remapped	Perfect	NC_000018.9:g.(739 53905_73953941)_(7 3953905_73953941)i ns295	GRCh37.p13	First Pass	NC_000018.9	Chr18	73,953,923 (-18, +18)	73,953,923 (-18, +18)
essv7840420	Submitted genomic		NC_000018.8:g.(720 82893_72082929)_(7 2082893_72082929)i ns295	NCBI36 (hg18)		NC_000018.8	Chr18	72,082,911 (-18, +18)	72,082,911 (-18, +18)
essv7840688	Submitted genomic		NC_000018.8:g.(720 82893_72082929)_(7 2082893_72082929)i ns295	NCBI36 (hg18)		NC_000018.8	Chr18	72,082,911 (-18, +18)	72,082,911 (-18, +18)
essv7841084	Submitted genomic		NC_000018.8:g.(720 82893_72082929)_(7 2082893_72082929)i ns295	NCBI36 (hg18)		NC_000018.8	Chr18	72,082,911 (-18, +18)	72,082,911 (-18, +18)
essv7841598	Submitted genomic		NC_000018.8:g.(720 82893_72082929)_(7 2082893_72082929)i ns295	NCBI36 (hg18)		NC_000018.8	Chr18	72,082,911 (-18, +18)	72,082,911 (-18, +18)
essv7843378	Submitted genomic		NC_000018.8:g.(720 82893_72082929)_(7 2082893_72082929)i ns295	NCBI36 (hg18)		NC_000018.8	Chr18	72,082,911 (-18, +18)	72,082,911 (-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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