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

dbVar

Database of genomic structural variation

esv3852853

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:41,586

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: 536 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):14,631,198-14,673,783

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3852853	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	14,631,698 (-500, +0)	14,673,283 (-0, +500)
esv3852853	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	14,489,207 (-500, +0)	14,530,792 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv21054215	deletion	HG00560	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,157

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv21054215	Remapped	Perfect	NC_000008.11:g.(14 631198_14631698)_( 14673283_14673783) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	14,631,698 (-500, +0)	14,673,283 (-0, +500)
essv21054215	Submitted genomic		NC_000008.10:g.(14 488707_14489207)_( 14530792_14531292) del	GRCh37 (hg19)		NC_000008.10	Chr8	14,489,207 (-500, +0)	14,530,792 (-0, +500)

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