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

dbVar

Database of genomic structural variation

esv3593257

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:280,264

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: 844 SVs from 68 studies. See in: genome view

Remapped(Score: Perfect):166,648,099-166,928,362

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3593257	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	166,648,099	166,928,362
esv3593257	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	167,504,609	167,784,872

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv10749212	duplication	SAMN00009199	Sequencing	Read depth and paired-end mapping	Heterozygous	2,710

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv10749212	Remapped	Perfect	NC_000002.12:g.166 648099_166928362du p	GRCh38.p12	First Pass	NC_000002.12	Chr2	166,648,099	166,928,362
essv10749212	Submitted genomic		NC_000002.11:g.167 504609_167784872du p	GRCh37 (hg19)		NC_000002.11	Chr2	167,504,609	167,784,872

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