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dbVar

Database of genomic structural variation

esv3310395

Organism: Homo sapiens

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

Variant Calls:6
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: 128 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):17,416,135-17,416,171

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3310395	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	17,416,153 (-18, +18)	17,416,153 (-18, +18)
esv3310395	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	17,416,384 (-18, +18)	17,416,384 (-18, +18)
esv3310395	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	17,524,363 (-18, +18)	17,524,363 (-18, +18)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv7840442	mobile element insertion	SAMN00801888	Sequencing	Split read and paired-end mapping	69,298
essv7840497	mobile element insertion	SAMN00801912	Sequencing	Split read and paired-end mapping	25,841
essv7841307	mobile element insertion	SAMN00801914	Sequencing	Split read and paired-end mapping	26,039
essv7842207	mobile element insertion	SAMN00001696	Sequencing	Split read and paired-end mapping	44,056
essv7842559	mobile element insertion	SAMN00001694	Sequencing	Split read and paired-end mapping	29,487
essv7843110	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
essv7840442	Remapped	Perfect	NC_000006.12:g.(17 416135_17416171)_( 17416135_17416171) ins292	GRCh38.p12	First Pass	NC_000006.12	Chr6	17,416,153 (-18, +18)	17,416,153 (-18, +18)
essv7840497	Remapped	Perfect	NC_000006.12:g.(17 416135_17416171)_( 17416135_17416171) ins292	GRCh38.p12	First Pass	NC_000006.12	Chr6	17,416,153 (-18, +18)	17,416,153 (-18, +18)
essv7841307	Remapped	Perfect	NC_000006.12:g.(17 416135_17416171)_( 17416135_17416171) ins292	GRCh38.p12	First Pass	NC_000006.12	Chr6	17,416,153 (-18, +18)	17,416,153 (-18, +18)
essv7842207	Remapped	Perfect	NC_000006.12:g.(17 416135_17416171)_( 17416135_17416171) ins292	GRCh38.p12	First Pass	NC_000006.12	Chr6	17,416,153 (-18, +18)	17,416,153 (-18, +18)
essv7842559	Remapped	Perfect	NC_000006.12:g.(17 416135_17416171)_( 17416135_17416171) ins292	GRCh38.p12	First Pass	NC_000006.12	Chr6	17,416,153 (-18, +18)	17,416,153 (-18, +18)
essv7843110	Remapped	Perfect	NC_000006.12:g.(17 416135_17416171)_( 17416135_17416171) ins292	GRCh38.p12	First Pass	NC_000006.12	Chr6	17,416,153 (-18, +18)	17,416,153 (-18, +18)
essv7840442	Remapped	Perfect	NC_000006.11:g.(17 416366_17416402)_( 17416366_17416402) ins292	GRCh37.p13	First Pass	NC_000006.11	Chr6	17,416,384 (-18, +18)	17,416,384 (-18, +18)
essv7840497	Remapped	Perfect	NC_000006.11:g.(17 416366_17416402)_( 17416366_17416402) ins292	GRCh37.p13	First Pass	NC_000006.11	Chr6	17,416,384 (-18, +18)	17,416,384 (-18, +18)
essv7841307	Remapped	Perfect	NC_000006.11:g.(17 416366_17416402)_( 17416366_17416402) ins292	GRCh37.p13	First Pass	NC_000006.11	Chr6	17,416,384 (-18, +18)	17,416,384 (-18, +18)
essv7842207	Remapped	Perfect	NC_000006.11:g.(17 416366_17416402)_( 17416366_17416402) ins292	GRCh37.p13	First Pass	NC_000006.11	Chr6	17,416,384 (-18, +18)	17,416,384 (-18, +18)
essv7842559	Remapped	Perfect	NC_000006.11:g.(17 416366_17416402)_( 17416366_17416402) ins292	GRCh37.p13	First Pass	NC_000006.11	Chr6	17,416,384 (-18, +18)	17,416,384 (-18, +18)
essv7843110	Remapped	Perfect	NC_000006.11:g.(17 416366_17416402)_( 17416366_17416402) ins292	GRCh37.p13	First Pass	NC_000006.11	Chr6	17,416,384 (-18, +18)	17,416,384 (-18, +18)
essv7840442	Submitted genomic		NC_000006.10:g.(17 524345_17524381)_( 17524345_17524381) ins292	NCBI36 (hg18)		NC_000006.10	Chr6	17,524,363 (-18, +18)	17,524,363 (-18, +18)
essv7840497	Submitted genomic		NC_000006.10:g.(17 524345_17524381)_( 17524345_17524381) ins292	NCBI36 (hg18)		NC_000006.10	Chr6	17,524,363 (-18, +18)	17,524,363 (-18, +18)
essv7841307	Submitted genomic		NC_000006.10:g.(17 524345_17524381)_( 17524345_17524381) ins292	NCBI36 (hg18)		NC_000006.10	Chr6	17,524,363 (-18, +18)	17,524,363 (-18, +18)
essv7842207	Submitted genomic		NC_000006.10:g.(17 524345_17524381)_( 17524345_17524381) ins292	NCBI36 (hg18)		NC_000006.10	Chr6	17,524,363 (-18, +18)	17,524,363 (-18, +18)
essv7842559	Submitted genomic		NC_000006.10:g.(17 524345_17524381)_( 17524345_17524381) ins292	NCBI36 (hg18)		NC_000006.10	Chr6	17,524,363 (-18, +18)	17,524,363 (-18, +18)
essv7843110	Submitted genomic		NC_000006.10:g.(17 524345_17524381)_( 17524345_17524381) ins292	NCBI36 (hg18)		NC_000006.10	Chr6	17,524,363 (-18, +18)	17,524,363 (-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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