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

dbVar

Database of genomic structural variation

esv3824499

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:417,243

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: 796 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):58,575,399-58,992,641

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3824499	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	58,575,399	58,992,641
esv3824499	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	58,802,534	59,219,776

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv17679771	duplication	HG04186	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,237

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv17679771	Remapped	Perfect	NC_000002.12:g.585 75399_58992641dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	58,575,399	58,992,641
essv17679771	Submitted genomic		NC_000002.11:g.588 02534_59219776dup	GRCh37 (hg19)		NC_000002.11	Chr2	58,802,534	59,219,776

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