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dbVar

Database of genomic structural variation

esv3882652

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:3
Validation:Not tested
Clinical Assertions: No
Region Size:52,363

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: 610 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):79,087,960-79,141,322

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3882652	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	79,088,460 (-500, +0)	79,140,822 (-0, +500)
esv3882652	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	76,848,460 (-500, +0)	76,900,822 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24567452	deletion	HG02896	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,590
essv24567453	deletion	HG03061	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,511
essv24567454	deletion	NA06984	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,858

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24567452	Remapped	Perfect	NC_000018.10:g.(79 087960_79088460)_( 79140822_79141322) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	79,088,460 (-500, +0)	79,140,822 (-0, +500)
essv24567453	Remapped	Perfect	NC_000018.10:g.(79 087960_79088460)_( 79140822_79141322) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	79,088,460 (-500, +0)	79,140,822 (-0, +500)
essv24567454	Remapped	Perfect	NC_000018.10:g.(79 087960_79088460)_( 79140822_79141322) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	79,088,460 (-500, +0)	79,140,822 (-0, +500)
essv24567452	Submitted genomic		NC_000018.9:g.(768 47960_76848460)_(7 6900822_76901322)d el	GRCh37 (hg19)		NC_000018.9	Chr18	76,848,460 (-500, +0)	76,900,822 (-0, +500)
essv24567453	Submitted genomic		NC_000018.9:g.(768 47960_76848460)_(7 6900822_76901322)d el	GRCh37 (hg19)		NC_000018.9	Chr18	76,848,460 (-500, +0)	76,900,822 (-0, +500)
essv24567454	Submitted genomic		NC_000018.9:g.(768 47960_76848460)_(7 6900822_76901322)d el	GRCh37 (hg19)		NC_000018.9	Chr18	76,848,460 (-500, +0)	76,900,822 (-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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