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dbVar

Database of genomic structural variation

esv3843015

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:216,530

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: 632 SVs from 58 studies. See in: genome view

Remapped(Score: Perfect):164,607,720-164,824,249

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3843015	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	164,607,720	164,824,249
esv3843015	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	164,034,726	164,251,255

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv19843353	duplication	NA21090	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,178

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv19843353	Remapped	Perfect	NC_000005.10:g.164 607720_164824249du p	GRCh38.p12	First Pass	NC_000005.10	Chr5	164,607,720	164,824,249
essv19843353	Submitted genomic		NC_000005.9:g.1640 34726_164251255dup	GRCh37 (hg19)		NC_000005.9	Chr5	164,034,726	164,251,255

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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