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dbVar

Database of genomic structural variation

esv3859629

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:2
Validation:Not tested
Clinical Assertions: No
Region Size:13,676

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: 147 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):12,992,380-13,006,115

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3859629	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	12,992,410 (-30, +30)	13,006,085 (-30, +30)
esv3859629	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	13,034,410 (-30, +30)	13,048,085 (-30, +30)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv21854041	deletion	HG01464	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,831
essv21854042	deletion	HG02679	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,914

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv21854041	Remapped	Perfect	NC_000010.11:g.(12 992380_12992440)_( 13006055_13006115) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	12,992,410 (-30, +30)	13,006,085 (-30, +30)
essv21854042	Remapped	Perfect	NC_000010.11:g.(12 992380_12992440)_( 13006055_13006115) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	12,992,410 (-30, +30)	13,006,085 (-30, +30)
essv21854041	Submitted genomic		NC_000010.10:g.(13 034380_13034440)_( 13048055_13048115) del	GRCh37 (hg19)		NC_000010.10	Chr10	13,034,410 (-30, +30)	13,048,085 (-30, +30)
essv21854042	Submitted genomic		NC_000010.10:g.(13 034380_13034440)_( 13048055_13048115) del	GRCh37 (hg19)		NC_000010.10	Chr10	13,034,410 (-30, +30)	13,048,085 (-30, +30)

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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