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dbVar

Database of genomic structural variation

esv3867891

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:7
Validation:Not tested
Clinical Assertions: No
Region Size:9,794

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: 164 SVs from 37 studies. See in: genome view

Remapped(Score: Perfect):68,048,849-68,058,652

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3867891	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	68,048,854 (-5, +5)	68,058,647 (-5, +5)
esv3867891	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	68,442,634 (-5, +5)	68,452,427 (-5, +5)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv22870765	deletion	HG00525	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,396
essv22870766	deletion	HG00705	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,181
essv22870767	deletion	HG01865	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,541
essv22870768	deletion	HG02138	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,349
essv22870769	deletion	HG02180	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,284
essv22870770	deletion	HG02374	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,698
essv22870771	deletion	HG02397	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,636

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv22870765	Remapped	Perfect	NC_000012.12:g.(68 048849_68048859)_( 68058642_68058652) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	68,048,854 (-5, +5)	68,058,647 (-5, +5)
essv22870766	Remapped	Perfect	NC_000012.12:g.(68 048849_68048859)_( 68058642_68058652) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	68,048,854 (-5, +5)	68,058,647 (-5, +5)
essv22870767	Remapped	Perfect	NC_000012.12:g.(68 048849_68048859)_( 68058642_68058652) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	68,048,854 (-5, +5)	68,058,647 (-5, +5)
essv22870768	Remapped	Perfect	NC_000012.12:g.(68 048849_68048859)_( 68058642_68058652) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	68,048,854 (-5, +5)	68,058,647 (-5, +5)
essv22870769	Remapped	Perfect	NC_000012.12:g.(68 048849_68048859)_( 68058642_68058652) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	68,048,854 (-5, +5)	68,058,647 (-5, +5)
essv22870770	Remapped	Perfect	NC_000012.12:g.(68 048849_68048859)_( 68058642_68058652) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	68,048,854 (-5, +5)	68,058,647 (-5, +5)
essv22870771	Remapped	Perfect	NC_000012.12:g.(68 048849_68048859)_( 68058642_68058652) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	68,048,854 (-5, +5)	68,058,647 (-5, +5)
essv22870765	Submitted genomic		NC_000012.11:g.(68 442629_68442639)_( 68452422_68452432) del	GRCh37 (hg19)		NC_000012.11	Chr12	68,442,634 (-5, +5)	68,452,427 (-5, +5)
essv22870766	Submitted genomic		NC_000012.11:g.(68 442629_68442639)_( 68452422_68452432) del	GRCh37 (hg19)		NC_000012.11	Chr12	68,442,634 (-5, +5)	68,452,427 (-5, +5)
essv22870767	Submitted genomic		NC_000012.11:g.(68 442629_68442639)_( 68452422_68452432) del	GRCh37 (hg19)		NC_000012.11	Chr12	68,442,634 (-5, +5)	68,452,427 (-5, +5)
essv22870768	Submitted genomic		NC_000012.11:g.(68 442629_68442639)_( 68452422_68452432) del	GRCh37 (hg19)		NC_000012.11	Chr12	68,442,634 (-5, +5)	68,452,427 (-5, +5)
essv22870769	Submitted genomic		NC_000012.11:g.(68 442629_68442639)_( 68452422_68452432) del	GRCh37 (hg19)		NC_000012.11	Chr12	68,442,634 (-5, +5)	68,452,427 (-5, +5)
essv22870770	Submitted genomic		NC_000012.11:g.(68 442629_68442639)_( 68452422_68452432) del	GRCh37 (hg19)		NC_000012.11	Chr12	68,442,634 (-5, +5)	68,452,427 (-5, +5)
essv22870771	Submitted genomic		NC_000012.11:g.(68 442629_68442639)_( 68452422_68452432) del	GRCh37 (hg19)		NC_000012.11	Chr12	68,442,634 (-5, +5)	68,452,427 (-5, +5)

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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