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dbVar

Database of genomic structural variation

esv3884124

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:8
Validation:Not tested
Clinical Assertions: No
Region Size:11,071

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: 172 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):50,752,797-50,763,967

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3884124	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	50,752,847 (-50, +50)	50,763,917 (-50, +50)
esv3884124	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	51,256,104 (-50, +50)	51,267,174 (-50, +50)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24682128	deletion	HG00598	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,624
essv24682129	deletion	HG01866	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,567
essv24682130	deletion	HG01933	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,343
essv24682131	deletion	HG02155	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,394
essv24682132	deletion	HG02807	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,100
essv24682133	deletion	HG03695	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,442
essv24682134	deletion	HG04061	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,122
essv24682135	deletion	NA18565	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,272

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24682128	Remapped	Perfect	NC_000019.10:g.(50 752797_50752897)_( 50763867_50763967) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	50,752,847 (-50, +50)	50,763,917 (-50, +50)
essv24682129	Remapped	Perfect	NC_000019.10:g.(50 752797_50752897)_( 50763867_50763967) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	50,752,847 (-50, +50)	50,763,917 (-50, +50)
essv24682130	Remapped	Perfect	NC_000019.10:g.(50 752797_50752897)_( 50763867_50763967) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	50,752,847 (-50, +50)	50,763,917 (-50, +50)
essv24682131	Remapped	Perfect	NC_000019.10:g.(50 752797_50752897)_( 50763867_50763967) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	50,752,847 (-50, +50)	50,763,917 (-50, +50)
essv24682132	Remapped	Perfect	NC_000019.10:g.(50 752797_50752897)_( 50763867_50763967) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	50,752,847 (-50, +50)	50,763,917 (-50, +50)
essv24682133	Remapped	Perfect	NC_000019.10:g.(50 752797_50752897)_( 50763867_50763967) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	50,752,847 (-50, +50)	50,763,917 (-50, +50)
essv24682134	Remapped	Perfect	NC_000019.10:g.(50 752797_50752897)_( 50763867_50763967) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	50,752,847 (-50, +50)	50,763,917 (-50, +50)
essv24682135	Remapped	Perfect	NC_000019.10:g.(50 752797_50752897)_( 50763867_50763967) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	50,752,847 (-50, +50)	50,763,917 (-50, +50)
essv24682128	Submitted genomic		NC_000019.9:g.(512 56054_51256154)_(5 1267124_51267224)d el	GRCh37 (hg19)		NC_000019.9	Chr19	51,256,104 (-50, +50)	51,267,174 (-50, +50)
essv24682129	Submitted genomic		NC_000019.9:g.(512 56054_51256154)_(5 1267124_51267224)d el	GRCh37 (hg19)		NC_000019.9	Chr19	51,256,104 (-50, +50)	51,267,174 (-50, +50)
essv24682130	Submitted genomic		NC_000019.9:g.(512 56054_51256154)_(5 1267124_51267224)d el	GRCh37 (hg19)		NC_000019.9	Chr19	51,256,104 (-50, +50)	51,267,174 (-50, +50)
essv24682131	Submitted genomic		NC_000019.9:g.(512 56054_51256154)_(5 1267124_51267224)d el	GRCh37 (hg19)		NC_000019.9	Chr19	51,256,104 (-50, +50)	51,267,174 (-50, +50)
essv24682132	Submitted genomic		NC_000019.9:g.(512 56054_51256154)_(5 1267124_51267224)d el	GRCh37 (hg19)		NC_000019.9	Chr19	51,256,104 (-50, +50)	51,267,174 (-50, +50)
essv24682133	Submitted genomic		NC_000019.9:g.(512 56054_51256154)_(5 1267124_51267224)d el	GRCh37 (hg19)		NC_000019.9	Chr19	51,256,104 (-50, +50)	51,267,174 (-50, +50)
essv24682134	Submitted genomic		NC_000019.9:g.(512 56054_51256154)_(5 1267124_51267224)d el	GRCh37 (hg19)		NC_000019.9	Chr19	51,256,104 (-50, +50)	51,267,174 (-50, +50)
essv24682135	Submitted genomic		NC_000019.9:g.(512 56054_51256154)_(5 1267124_51267224)d el	GRCh37 (hg19)		NC_000019.9	Chr19	51,256,104 (-50, +50)	51,267,174 (-50, +50)

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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