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dbVar

Database of genomic structural variation

esv3855728

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:18,864

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: 277 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):133,162,731-133,181,946

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3855728	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	133,162,907 (-176, +176)	133,181,770 (-176, +176)
esv3855728	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	134,175,151 (-176, +176)	134,194,014 (-176, +176)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv21389485	inversion	NA18865	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,199

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv21389485	Remapped	Perfect	NC_000008.11:g.(13 3162731_133163083) _(133181594_133181 946)inv	GRCh38.p12	First Pass	NC_000008.11	Chr8	133,162,907 (-176, +176)	133,181,770 (-176, +176)
essv21389485	Submitted genomic		NC_000008.10:g.(13 4174975_134175327) _(134193838_134194 190)inv	GRCh37 (hg19)		NC_000008.10	Chr8	134,175,151 (-176, +176)	134,194,014 (-176, +176)

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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