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dbVar

Database of genomic structural variation

esv3878175

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:3
Validation:Not tested
Clinical Assertions: No
Region Size:38,910

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: 300 SVs from 48 studies. See in: genome view

Remapped(Score: Perfect):79,218,778-79,259,687

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3878175	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	79,219,778 (-1000, +500)	79,258,687 (-500, +1000)
esv3878175	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	79,253,675 (-1000, +500)	79,292,584 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24068410	deletion	HG00234	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,309
essv24068411	deletion	HG04186	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,237
essv24068412	deletion	NA19474	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,765

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24068410	Remapped	Perfect	NC_000016.10:g.(79 218778_79220278)_( 79258187_79259687) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	79,219,778 (-1000, +500)	79,258,687 (-500, +1000)
essv24068411	Remapped	Perfect	NC_000016.10:g.(79 218778_79220278)_( 79258187_79259687) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	79,219,778 (-1000, +500)	79,258,687 (-500, +1000)
essv24068412	Remapped	Perfect	NC_000016.10:g.(79 218778_79220278)_( 79258187_79259687) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	79,219,778 (-1000, +500)	79,258,687 (-500, +1000)
essv24068410	Submitted genomic		NC_000016.9:g.(792 52675_79254175)_(7 9292084_79293584)d el	GRCh37 (hg19)		NC_000016.9	Chr16	79,253,675 (-1000, +500)	79,292,584 (-500, +1000)
essv24068411	Submitted genomic		NC_000016.9:g.(792 52675_79254175)_(7 9292084_79293584)d el	GRCh37 (hg19)		NC_000016.9	Chr16	79,253,675 (-1000, +500)	79,292,584 (-500, +1000)
essv24068412	Submitted genomic		NC_000016.9:g.(792 52675_79254175)_(7 9292084_79293584)d el	GRCh37 (hg19)		NC_000016.9	Chr16	79,253,675 (-1000, +500)	79,292,584 (-500, +1000)

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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