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dbVar

Database of genomic structural variation

esv3883369

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:5
Validation:Not tested
Clinical Assertions: No
Region Size:39,403

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: 370 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):22,349,145-22,388,667

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3883369	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	22,349,205 (-60, +60)	22,388,607 (-60, +60)
esv3883369	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	22,532,007 (-60, +60)	22,571,409 (-60, +60)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24620704	deletion	HG00422	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,468
essv24620705	deletion	HG00844	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,647
essv24620706	deletion	NA18943	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,734
essv24620707	deletion	NA18987	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,150
essv24620708	deletion	NA18992	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,991

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24620704	Remapped	Perfect	NC_000019.10:g.(22 349145_22349265)_( 22388547_22388667) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	22,349,205 (-60, +60)	22,388,607 (-60, +60)
essv24620705	Remapped	Perfect	NC_000019.10:g.(22 349145_22349265)_( 22388547_22388667) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	22,349,205 (-60, +60)	22,388,607 (-60, +60)
essv24620706	Remapped	Perfect	NC_000019.10:g.(22 349145_22349265)_( 22388547_22388667) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	22,349,205 (-60, +60)	22,388,607 (-60, +60)
essv24620707	Remapped	Perfect	NC_000019.10:g.(22 349145_22349265)_( 22388547_22388667) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	22,349,205 (-60, +60)	22,388,607 (-60, +60)
essv24620708	Remapped	Perfect	NC_000019.10:g.(22 349145_22349265)_( 22388547_22388667) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	22,349,205 (-60, +60)	22,388,607 (-60, +60)
essv24620704	Submitted genomic		NC_000019.9:g.(225 31947_22532067)_(2 2571349_22571469)d el	GRCh37 (hg19)		NC_000019.9	Chr19	22,532,007 (-60, +60)	22,571,409 (-60, +60)
essv24620705	Submitted genomic		NC_000019.9:g.(225 31947_22532067)_(2 2571349_22571469)d el	GRCh37 (hg19)		NC_000019.9	Chr19	22,532,007 (-60, +60)	22,571,409 (-60, +60)
essv24620706	Submitted genomic		NC_000019.9:g.(225 31947_22532067)_(2 2571349_22571469)d el	GRCh37 (hg19)		NC_000019.9	Chr19	22,532,007 (-60, +60)	22,571,409 (-60, +60)
essv24620707	Submitted genomic		NC_000019.9:g.(225 31947_22532067)_(2 2571349_22571469)d el	GRCh37 (hg19)		NC_000019.9	Chr19	22,532,007 (-60, +60)	22,571,409 (-60, +60)
essv24620708	Submitted genomic		NC_000019.9:g.(225 31947_22532067)_(2 2571349_22571469)d el	GRCh37 (hg19)		NC_000019.9	Chr19	22,532,007 (-60, +60)	22,571,409 (-60, +60)

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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