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dbVar

Database of genomic structural variation

esv3844587

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:43,603

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: 287 SVs from 54 studies. See in: genome view

Remapped(Score: Perfect):45,029,285-45,072,901

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3844587	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	45,029,292 (-7, +7)	45,072,894 (-7, +7)
esv3844587	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	44,997,029 (-7, +7)	45,040,631 (-7, +7)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20127000	deletion	HG00136	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,447

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20127000	Remapped	Perfect	NC_000006.12:g.(45 029285_45029299)_( 45072887_45072901) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	45,029,292 (-7, +7)	45,072,894 (-7, +7)
essv20127000	Submitted genomic		NC_000006.11:g.(44 997022_44997036)_( 45040624_45040638) del	GRCh37 (hg19)		NC_000006.11	Chr6	44,997,029 (-7, +7)	45,040,631 (-7, +7)

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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