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

dbVar

Database of genomic structural variation

esv3847947

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:60,549

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: 556 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):3,352,838-3,413,425

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3847947	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	3,352,857 (-19, +20)	3,413,405 (-19, +20)
esv3847947	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	3,392,489 (-19, +20)	3,453,037 (-19, +20)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20521405	deletion	NA19222	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,939

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20521405	Remapped	Perfect	NC_000007.14:g.(33 52838_3352877)_(34 13386_3413425)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	3,352,857 (-19, +20)	3,413,405 (-19, +20)
essv20521405	Submitted genomic		NC_000007.13:g.(33 92470_3392509)_(34 53018_3453057)del	GRCh37 (hg19)		NC_000007.13	Chr7	3,392,489 (-19, +20)	3,453,037 (-19, +20)

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