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dbVar

Database of genomic structural variation

esv3874935

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:17,291

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: 174 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):44,131,348-44,148,661

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3874935	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	44,131,359 (-11, +12)	44,148,649 (-11, +12)
esv3874935	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	44,423,557 (-11, +12)	44,440,847 (-11, +12)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv23729781	deletion	HG00189	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,558
essv23729782	deletion	HG00267	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,486
essv23729783	deletion	HG00332	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,201

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv23729781	Remapped	Perfect	NC_000015.10:g.(44 131348_44131371)_( 44148638_44148661) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	44,131,359 (-11, +12)	44,148,649 (-11, +12)
essv23729782	Remapped	Perfect	NC_000015.10:g.(44 131348_44131371)_( 44148638_44148661) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	44,131,359 (-11, +12)	44,148,649 (-11, +12)
essv23729783	Remapped	Perfect	NC_000015.10:g.(44 131348_44131371)_( 44148638_44148661) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	44,131,359 (-11, +12)	44,148,649 (-11, +12)
essv23729781	Submitted genomic		NC_000015.9:g.(444 23546_44423569)_(4 4440836_44440859)d el	GRCh37 (hg19)		NC_000015.9	Chr15	44,423,557 (-11, +12)	44,440,847 (-11, +12)
essv23729782	Submitted genomic		NC_000015.9:g.(444 23546_44423569)_(4 4440836_44440859)d el	GRCh37 (hg19)		NC_000015.9	Chr15	44,423,557 (-11, +12)	44,440,847 (-11, +12)
essv23729783	Submitted genomic		NC_000015.9:g.(444 23546_44423569)_(4 4440836_44440859)d el	GRCh37 (hg19)		NC_000015.9	Chr15	44,423,557 (-11, +12)	44,440,847 (-11, +12)

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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