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dbVar

Database of genomic structural variation

esv3829080

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:4
Validation:Not tested
Clinical Assertions: No
Region Size:141,294

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: 1518 SVs from 85 studies. See in: genome view

Remapped(Score: Perfect):4,130,632-4,271,948

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3829080	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	4,130,643 (-11, +12)	4,271,936 (-11, +12)
esv3829080	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	4,172,327 (-11, +12)	4,313,620 (-11, +12)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv18172590	deletion	HG02221	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,528
essv18172591	deletion	HG03814	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,493
essv18172592	deletion	NA18557	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,575
essv18172593	deletion	NA19779	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,175

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv18172590	Remapped	Perfect	NC_000003.12:g.(41 30632_4130655)_(42 71925_4271948)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,130,643 (-11, +12)	4,271,936 (-11, +12)
essv18172591	Remapped	Perfect	NC_000003.12:g.(41 30632_4130655)_(42 71925_4271948)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,130,643 (-11, +12)	4,271,936 (-11, +12)
essv18172592	Remapped	Perfect	NC_000003.12:g.(41 30632_4130655)_(42 71925_4271948)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,130,643 (-11, +12)	4,271,936 (-11, +12)
essv18172593	Remapped	Perfect	NC_000003.12:g.(41 30632_4130655)_(42 71925_4271948)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,130,643 (-11, +12)	4,271,936 (-11, +12)
essv18172590	Submitted genomic		NC_000003.11:g.(41 72316_4172339)_(43 13609_4313632)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,172,327 (-11, +12)	4,313,620 (-11, +12)
essv18172591	Submitted genomic		NC_000003.11:g.(41 72316_4172339)_(43 13609_4313632)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,172,327 (-11, +12)	4,313,620 (-11, +12)
essv18172592	Submitted genomic		NC_000003.11:g.(41 72316_4172339)_(43 13609_4313632)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,172,327 (-11, +12)	4,313,620 (-11, +12)
essv18172593	Submitted genomic		NC_000003.11:g.(41 72316_4172339)_(43 13609_4313632)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,172,327 (-11, +12)	4,313,620 (-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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