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dbVar

Database of genomic structural variation

esv3878543

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:345

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: 254 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):89,542,865-89,543,209

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3878543	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	89,542,865	89,543,209
esv3878543	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	89,609,273	89,609,617

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24108048	alu deletion	HG03518	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,618

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24108048	Remapped	Perfect	NC_000016.10:g.895 42865_89543209del	GRCh38.p12	First Pass	NC_000016.10	Chr16	89,542,865	89,543,209
essv24108048	Submitted genomic		NC_000016.9:g.8960 9273_89609617del	GRCh37 (hg19)		NC_000016.9	Chr16	89,609,273	89,609,617

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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