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

dbVar

Database of genomic structural variation

esv3607479

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:216,530

Publication(s):1000 Genomes Project Consortium et al. 2015

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: 633 SVs from 58 studies. See in: genome view

Remapped(Score: Perfect):164,607,720-164,824,249

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3607479	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	164,607,720	164,824,249
esv3607479	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	164,034,726	164,251,255

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv12123835	duplication	SAMN00007939	Sequencing	Read depth and paired-end mapping	Heterozygous	2,315

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv12123835	Remapped	Perfect	NC_000005.10:g.164 607720_164824249du p	GRCh38.p12	First Pass	NC_000005.10	Chr5	164,607,720	164,824,249
essv12123835	Submitted genomic		NC_000005.9:g.1640 34726_164251255dup	GRCh37 (hg19)		NC_000005.9	Chr5	164,034,726	164,251,255

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