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dbVar

Database of genomic structural variation

esv3309565

Organism: Homo sapiens

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

Variant Calls:2
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: 109 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):28,546,545-28,546,603

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3309565	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	28,546,574 (-29, +29)	28,546,574 (-29, +29)
esv3309565	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_113891.3	Chr6\|NT_11 3891.3	36,455 (-29, +29)	36,455 (-29, +29)
esv3309565	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	28,514,351 (-29, +29)	28,514,351 (-29, +29)
esv3309565	Remapped	Perfect	GRCh37.p13	ALT_REF_LOCI_2	Second Pass	NT_113891.2	Chr6\|NT_11 3891.2	36,555 (-29, +29)	36,555 (-29, +29)
esv3309565	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	28,622,330 (-29, +29)	28,622,330 (-29, +29)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv7837573	mobile element insertion	SAMN00001696	Sequencing	Paired-end mapping	44,056
essv7838992	mobile element insertion	SAMN00001694	Sequencing	Paired-end mapping	29,487

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv7837573	Remapped	Perfect	NT_113891.3:g.(364 26_36484)_(36426_3 6484)ins171	GRCh38.p12	Second Pass	NT_113891.3	Chr6\|NT_11 3891.3	36,455 (-29, +29)	36,455 (-29, +29)
essv7838992	Remapped	Perfect	NT_113891.3:g.(364 26_36484)_(36426_3 6484)ins171	GRCh38.p12	Second Pass	NT_113891.3	Chr6\|NT_11 3891.3	36,455 (-29, +29)	36,455 (-29, +29)
essv7837573	Remapped	Perfect	NC_000006.12:g.(28 546545_28546603)_( 28546545_28546603) ins171	GRCh38.p12	First Pass	NC_000006.12	Chr6	28,546,574 (-29, +29)	28,546,574 (-29, +29)
essv7838992	Remapped	Perfect	NC_000006.12:g.(28 546545_28546603)_( 28546545_28546603) ins171	GRCh38.p12	First Pass	NC_000006.12	Chr6	28,546,574 (-29, +29)	28,546,574 (-29, +29)
essv7837573	Remapped	Perfect	NT_113891.2:g.(365 26_36584)_(36526_3 6584)ins171	GRCh37.p13	Second Pass	NT_113891.2	Chr6\|NT_11 3891.2	36,555 (-29, +29)	36,555 (-29, +29)
essv7838992	Remapped	Perfect	NT_113891.2:g.(365 26_36584)_(36526_3 6584)ins171	GRCh37.p13	Second Pass	NT_113891.2	Chr6\|NT_11 3891.2	36,555 (-29, +29)	36,555 (-29, +29)
essv7837573	Remapped	Perfect	NC_000006.11:g.(28 514322_28514380)_( 28514322_28514380) ins171	GRCh37.p13	First Pass	NC_000006.11	Chr6	28,514,351 (-29, +29)	28,514,351 (-29, +29)
essv7838992	Remapped	Perfect	NC_000006.11:g.(28 514322_28514380)_( 28514322_28514380) ins171	GRCh37.p13	First Pass	NC_000006.11	Chr6	28,514,351 (-29, +29)	28,514,351 (-29, +29)
essv7837573	Submitted genomic		NC_000006.10:g.(28 622301_28622359)_( 28622301_28622359) ins171	NCBI36 (hg18)		NC_000006.10	Chr6	28,622,330 (-29, +29)	28,622,330 (-29, +29)
essv7838992	Submitted genomic		NC_000006.10:g.(28 622301_28622359)_( 28622301_28622359) ins171	NCBI36 (hg18)		NC_000006.10	Chr6	28,622,330 (-29, +29)	28,622,330 (-29, +29)

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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