Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv3823320

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:1
Validation:Not tested
Clinical Assertions: No
Region Size:323,818

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: 840 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):15,024,669-15,348,561

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3823320	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	15,024,706 (-37, +38)	15,348,523 (-37, +38)
esv3823320	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	15,164,830 (-37, +38)	15,488,647 (-37, +38)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv17555301	deletion	HG01997	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,083

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv17555301	Remapped	Perfect	NC_000002.12:g.(15 024669_15024744)_( 15348486_15348561) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	15,024,706 (-37, +38)	15,348,523 (-37, +38)
essv17555301	Submitted genomic		NC_000002.11:g.(15 164793_15164868)_( 15488610_15488685) del	GRCh37 (hg19)		NC_000002.11	Chr2	15,164,830 (-37, +38)	15,488,647 (-37, +38)

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.

You are here: NCBI