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dbVar

Database of genomic structural variation

esv3835354

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:20,433

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: 154 SVs from 35 studies. See in: genome view

Remapped(Score: Perfect):61,342,200-61,363,432

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3835354	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	61,342,600 (-400, +400)	61,363,032 (-400, +400)
esv3835354	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	62,208,318 (-400, +400)	62,228,750 (-400, +400)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv18875605	inversion	HG02600	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,633

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv18875605	Remapped	Perfect	NC_000004.12:g.(61 342200_61343000)_( 61362632_61363432) inv	GRCh38.p12	First Pass	NC_000004.12	Chr4	61,342,600 (-400, +400)	61,363,032 (-400, +400)
essv18875605	Submitted genomic		NC_000004.11:g.(62 207918_62208718)_( 62228350_62229150) inv	GRCh37 (hg19)		NC_000004.11	Chr4	62,208,318 (-400, +400)	62,228,750 (-400, +400)

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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