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

dbVar

Database of genomic structural variation

esv3822349

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:10,561

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: 199 SVs from 34 studies. See in: genome view

Remapped(Score: Good):225,972,546-225,985,106

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3822349	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	225,973,546 (-1000, +500)	225,984,106 (-500, +1000)
esv3822349	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	226,161,246 (-1000, +500)	226,171,807 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv17448544	deletion	HG00598	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,624

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv17448544	Remapped	Good	NC_000001.11:g.(22 5972546_225974046) _(225983606_225985 106)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	225,973,546 (-1000, +500)	225,984,106 (-500, +1000)
essv17448544	Submitted genomic		NC_000001.10:g.(22 6160246_226161746) _(226171307_226172 807)del	GRCh37 (hg19)		NC_000001.10	Chr1	226,161,246 (-1000, +500)	226,171,807 (-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.

You are here: NCBI