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dbVar

Database of genomic structural variation

esv3592222

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:240,661

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: 531 SVs from 64 studies. See in: genome view

Remapped(Score: Perfect):121,898,931-122,139,591

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3592222	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	121,898,931	122,139,591
esv3592222	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	122,656,507	122,897,167

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv10646006	duplication	SAMN00630217	Sequencing	Read depth and paired-end mapping	Heterozygous	3,296
essv10646007	duplication	SAMN01091034	Sequencing	Read depth and paired-end mapping	Heterozygous	2,695

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv10646006	Remapped	Perfect	NC_000002.12:g.121 898931_122139591du p	GRCh38.p12	First Pass	NC_000002.12	Chr2	121,898,931	122,139,591
essv10646007	Remapped	Perfect	NC_000002.12:g.121 898931_122139591du p	GRCh38.p12	First Pass	NC_000002.12	Chr2	121,898,931	122,139,591
essv10646006	Submitted genomic		NC_000002.11:g.122 656507_122897167du p	GRCh37 (hg19)		NC_000002.11	Chr2	122,656,507	122,897,167
essv10646007	Submitted genomic		NC_000002.11:g.122 656507_122897167du p	GRCh37 (hg19)		NC_000002.11	Chr2	122,656,507	122,897,167

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.

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