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dbVar

Database of genomic structural variation

esv3837186

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:37,213

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: 199 SVs from 42 studies. See in: genome view

Remapped(Score: Perfect):133,052,586-133,091,798

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3837186	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	133,053,586 (-1000, +500)	133,090,798 (-500, +1000)
esv3837186	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	133,974,741 (-1000, +500)	134,011,953 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv19126875	deletion	HG00335	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,641

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv19126875	Remapped	Perfect	NC_000004.12:g.(13 3052586_133054086) _(133090298_133091 798)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	133,053,586 (-1000, +500)	133,090,798 (-500, +1000)
essv19126875	Submitted genomic		NC_000004.11:g.(13 3973741_133975241) _(134011453_134012 953)del	GRCh37 (hg19)		NC_000004.11	Chr4	133,974,741 (-1000, +500)	134,011,953 (-500, +1000)

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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