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dbVar

Database of genomic structural variation

esv3829010

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:inversion
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:31,987

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 534 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):2,456,628-2,488,914

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3829010	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	2,456,778 (-150, +150)	2,488,764 (-150, +150)
esv3829010	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	2,498,462 (-150, +150)	2,530,448 (-150, +150)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv18167018	inversion	NA18592	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,389

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv18167018	Remapped	Perfect	NC_000003.12:g.(24 56628_2456928)_(24 88614_2488914)inv	GRCh38.p12	First Pass	NC_000003.12	Chr3	2,456,778 (-150, +150)	2,488,764 (-150, +150)
essv18167018	Submitted genomic		NC_000003.11:g.(24 98312_2498612)_(25 30298_2530598)inv	GRCh37 (hg19)		NC_000003.11	Chr3	2,498,462 (-150, +150)	2,530,448 (-150, +150)

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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