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dbVar

Database of genomic structural variation

esv3887134

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:12,274

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: 381 SVs from 57 studies. See in: genome view

Remapped(Score: Good):21,907,390-21,919,703

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3887134	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	21,907,410 (-20, +20)	21,919,683 (-20, +20)
esv3887134	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	22,261,750 (-20, +20)	22,274,056 (-20, +20)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25037295	deletion	HG01766	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,435

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25037295	Remapped	Good	NC_000022.11:g.(21 907390_21907430)_( 21919663_21919703) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	21,907,410 (-20, +20)	21,919,683 (-20, +20)
essv25037295	Submitted genomic		NC_000022.10:g.(22 261730_22261770)_( 22274036_22274076) del	GRCh37 (hg19)		NC_000022.10	Chr22	22,261,750 (-20, +20)	22,274,056 (-20, +20)

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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