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dbVar

Database of genomic structural variation

esv3832259

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:38,407

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: 201 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):139,028,055-139,067,461

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3832259	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	139,028,555 (-500, +0)	139,066,961 (-0, +500)
esv3832259	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	138,747,397 (-500, +0)	138,785,803 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv18509090	deletion	HG01851	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,378

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv18509090	Remapped	Perfect	NC_000003.12:g.(13 9028055_139028555) _(139066961_139067 461)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	139,028,555 (-500, +0)	139,066,961 (-0, +500)
essv18509090	Submitted genomic		NC_000003.11:g.(13 8746897_138747397) _(138785803_138786 303)del	GRCh37 (hg19)		NC_000003.11	Chr3	138,747,397 (-500, +0)	138,785,803 (-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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