esv3887869

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:10
Validation:Not tested
Clinical Assertions: No
Region Size:37,894

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: 492 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):49,767,345-49,806,238

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3887869	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	49,767,845 (-500, +0)	49,805,738 (-0, +500)
esv3887869	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	50,161,493 (-500, +0)	50,199,386 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25117548	deletion	HG00142	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,294
essv25117549	deletion	HG00182	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,506
essv25117550	deletion	HG00266	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,826
essv25117551	deletion	HG00272	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,040
essv25117552	deletion	HG00373	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,915
essv25117553	deletion	HG00404	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,066
essv25117554	deletion	HG00629	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,943
essv25117555	deletion	NA18995	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,441
essv25117556	deletion	NA19908	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,927
essv25117557	deletion	NA19917	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,589

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25117548	Remapped	Perfect	NC_000022.11:g.(49 767345_49767845)_( 49805738_49806238) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	49,767,845 (-500, +0)	49,805,738 (-0, +500)
essv25117549	Remapped	Perfect	NC_000022.11:g.(49 767345_49767845)_( 49805738_49806238) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	49,767,845 (-500, +0)	49,805,738 (-0, +500)
essv25117550	Remapped	Perfect	NC_000022.11:g.(49 767345_49767845)_( 49805738_49806238) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	49,767,845 (-500, +0)	49,805,738 (-0, +500)
essv25117551	Remapped	Perfect	NC_000022.11:g.(49 767345_49767845)_( 49805738_49806238) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	49,767,845 (-500, +0)	49,805,738 (-0, +500)
essv25117552	Remapped	Perfect	NC_000022.11:g.(49 767345_49767845)_( 49805738_49806238) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	49,767,845 (-500, +0)	49,805,738 (-0, +500)
essv25117553	Remapped	Perfect	NC_000022.11:g.(49 767345_49767845)_( 49805738_49806238) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	49,767,845 (-500, +0)	49,805,738 (-0, +500)
essv25117554	Remapped	Perfect	NC_000022.11:g.(49 767345_49767845)_( 49805738_49806238) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	49,767,845 (-500, +0)	49,805,738 (-0, +500)
essv25117555	Remapped	Perfect	NC_000022.11:g.(49 767345_49767845)_( 49805738_49806238) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	49,767,845 (-500, +0)	49,805,738 (-0, +500)
essv25117556	Remapped	Perfect	NC_000022.11:g.(49 767345_49767845)_( 49805738_49806238) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	49,767,845 (-500, +0)	49,805,738 (-0, +500)
essv25117557	Remapped	Perfect	NC_000022.11:g.(49 767345_49767845)_( 49805738_49806238) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	49,767,845 (-500, +0)	49,805,738 (-0, +500)
essv25117548	Submitted genomic		NC_000022.10:g.(50 160993_50161493)_( 50199386_50199886) del	GRCh37 (hg19)		NC_000022.10	Chr22	50,161,493 (-500, +0)	50,199,386 (-0, +500)
essv25117549	Submitted genomic		NC_000022.10:g.(50 160993_50161493)_( 50199386_50199886) del	GRCh37 (hg19)		NC_000022.10	Chr22	50,161,493 (-500, +0)	50,199,386 (-0, +500)
essv25117550	Submitted genomic		NC_000022.10:g.(50 160993_50161493)_( 50199386_50199886) del	GRCh37 (hg19)		NC_000022.10	Chr22	50,161,493 (-500, +0)	50,199,386 (-0, +500)
essv25117551	Submitted genomic		NC_000022.10:g.(50 160993_50161493)_( 50199386_50199886) del	GRCh37 (hg19)		NC_000022.10	Chr22	50,161,493 (-500, +0)	50,199,386 (-0, +500)
essv25117552	Submitted genomic		NC_000022.10:g.(50 160993_50161493)_( 50199386_50199886) del	GRCh37 (hg19)		NC_000022.10	Chr22	50,161,493 (-500, +0)	50,199,386 (-0, +500)
essv25117553	Submitted genomic		NC_000022.10:g.(50 160993_50161493)_( 50199386_50199886) del	GRCh37 (hg19)		NC_000022.10	Chr22	50,161,493 (-500, +0)	50,199,386 (-0, +500)
essv25117554	Submitted genomic		NC_000022.10:g.(50 160993_50161493)_( 50199386_50199886) del	GRCh37 (hg19)		NC_000022.10	Chr22	50,161,493 (-500, +0)	50,199,386 (-0, +500)
essv25117555	Submitted genomic		NC_000022.10:g.(50 160993_50161493)_( 50199386_50199886) del	GRCh37 (hg19)		NC_000022.10	Chr22	50,161,493 (-500, +0)	50,199,386 (-0, +500)
essv25117556	Submitted genomic		NC_000022.10:g.(50 160993_50161493)_( 50199386_50199886) del	GRCh37 (hg19)		NC_000022.10	Chr22	50,161,493 (-500, +0)	50,199,386 (-0, +500)
essv25117557	Submitted genomic		NC_000022.10:g.(50 160993_50161493)_( 50199386_50199886) del	GRCh37 (hg19)		NC_000022.10	Chr22	50,161,493 (-500, +0)	50,199,386 (-0, +500)

dbVar

Database of genomic structural variation

esv3887869

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

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.