Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv3860455

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:20,229

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: 250 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):48,251,576-48,272,190

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3860455	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	48,251,769 (-193, +193)	48,271,997 (-193, +193)
esv3860455	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	49,459,812 (-193, +193)	49,480,040 (-193, +193)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv21965499	inversion	HG01781	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,581

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv21965499	Remapped	Perfect	NC_000010.11:g.(48 251576_48251962)_( 48271804_48272190) inv	GRCh38.p12	First Pass	NC_000010.11	Chr10	48,251,769 (-193, +193)	48,271,997 (-193, +193)
essv21965499	Submitted genomic		NC_000010.10:g.(49 459619_49460005)_( 49479847_49480233) inv	GRCh37 (hg19)		NC_000010.10	Chr10	49,459,812 (-193, +193)	49,480,040 (-193, +193)

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.

You are here: NCBI