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dbVar

Database of genomic structural variation

esv3880794

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:24,610

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: 396 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):4,988,195-5,012,822

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3880794	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	4,988,204 (-9, +9)	5,012,813 (-9, +9)
esv3880794	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	4,988,203 (-9, +9)	5,012,812 (-9, +9)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24342621	deletion	NA20582	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,870

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24342621	Remapped	Perfect	NC_000018.10:g.(49 88195_4988213)_(50 12804_5012822)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	4,988,204 (-9, +9)	5,012,813 (-9, +9)
essv24342621	Submitted genomic		NC_000018.9:g.(498 8194_4988212)_(501 2803_5012821)del	GRCh37 (hg19)		NC_000018.9	Chr18	4,988,203 (-9, +9)	5,012,812 (-9, +9)

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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