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dbVar

Database of genomic structural variation

esv3864902

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:12,474

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: 235 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):88,636,683-88,650,156

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3864902	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	88,637,183 (-500, +0)	88,649,656 (-0, +500)
esv3864902	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	88,370,351 (-500, +0)	88,382,824 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv22505942	deletion	HG00107	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,529
essv22505943	deletion	HG00318	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,035

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv22505942	Remapped	Perfect	NC_000011.10:g.(88 636683_88637183)_( 88649656_88650156) del	GRCh38.p12	First Pass	NC_000011.10	Chr11	88,637,183 (-500, +0)	88,649,656 (-0, +500)
essv22505943	Remapped	Perfect	NC_000011.10:g.(88 636683_88637183)_( 88649656_88650156) del	GRCh38.p12	First Pass	NC_000011.10	Chr11	88,637,183 (-500, +0)	88,649,656 (-0, +500)
essv22505942	Submitted genomic		NC_000011.9:g.(883 69851_88370351)_(8 8382824_88383324)d el	GRCh37 (hg19)		NC_000011.9	Chr11	88,370,351 (-500, +0)	88,382,824 (-0, +500)
essv22505943	Submitted genomic		NC_000011.9:g.(883 69851_88370351)_(8 8382824_88383324)d el	GRCh37 (hg19)		NC_000011.9	Chr11	88,370,351 (-500, +0)	88,382,824 (-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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