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dbVar

Database of genomic structural variation

esv3880088

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:13,343

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: 158 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):63,526,276-63,539,764

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3880088	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	63,526,371 (-95, +0)	63,539,713 (-0, +51)
esv3880088	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	61,603,732 (-95, +0)	61,617,074 (-0, +51)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24265970	deletion	NA18574	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,299

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24265970	Remapped	Perfect	NC_000017.11:g.(63 526276_63526371)_( 63539713_63539764) del	GRCh38.p12	First Pass	NC_000017.11	Chr17	63,526,371 (-95, +0)	63,539,713 (-0, +51)
essv24265970	Submitted genomic		NC_000017.10:g.(61 603637_61603732)_( 61617074_61617125) del	GRCh37 (hg19)		NC_000017.10	Chr17	61,603,732 (-95, +0)	61,617,074 (-0, +51)

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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