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dbVar

Database of genomic structural variation

esv3843568

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:71,688

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: 442 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):5,266,331-5,339,018

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3843568	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	5,266,831 (-500, +0)	5,338,518 (-0, +500)
esv3843568	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	5,267,064 (-500, +0)	5,338,751 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv19917742	deletion	HG01973	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,038

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv19917742	Remapped	Perfect	NC_000006.12:g.(52 66331_5266831)_(53 38518_5339018)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	5,266,831 (-500, +0)	5,338,518 (-0, +500)
essv19917742	Submitted genomic		NC_000006.11:g.(52 66564_5267064)_(53 38751_5339251)del	GRCh37 (hg19)		NC_000006.11	Chr6	5,267,064 (-500, +0)	5,338,751 (-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.

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