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dbVar

Database of genomic structural variation

esv3594907

Organism: Homo sapiens

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

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:59,618

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: 675 SVs from 69 studies. See in: genome view

Remapped(Score: Perfect):485,480-545,101

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3594907	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	485,482 (-2, +2)	545,099 (-2, +2)
esv3594907	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	527,165 (-2, +2)	586,782 (-2, +2)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv10897568	deletion	SAMN00006574	Sequencing	Read depth and paired-end mapping	Heterozygous	2,657
essv10897569	deletion	SAMN00263025	Sequencing	Read depth and paired-end mapping	Heterozygous	2,756
essv10897570	deletion	SAMN01090980	Sequencing	Read depth and paired-end mapping	Heterozygous	2,763
essv10897571	deletion	SAMN01096806	Sequencing	Read depth and paired-end mapping	Heterozygous	2,544
essv10897572	deletion	SAMN01761519	Sequencing	Read depth and paired-end mapping	Heterozygous	2,888
essv10897573	deletion	SAMN00004490	Sequencing	Read depth and paired-end mapping	Heterozygous	2,750

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv10897568	Remapped	Perfect	NC_000003.12:g.(48 5480_485484)_(5450 97_545101)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	485,482 (-2, +2)	545,099 (-2, +2)
essv10897569	Remapped	Perfect	NC_000003.12:g.(48 5480_485484)_(5450 97_545101)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	485,482 (-2, +2)	545,099 (-2, +2)
essv10897570	Remapped	Perfect	NC_000003.12:g.(48 5480_485484)_(5450 97_545101)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	485,482 (-2, +2)	545,099 (-2, +2)
essv10897571	Remapped	Perfect	NC_000003.12:g.(48 5480_485484)_(5450 97_545101)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	485,482 (-2, +2)	545,099 (-2, +2)
essv10897572	Remapped	Perfect	NC_000003.12:g.(48 5480_485484)_(5450 97_545101)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	485,482 (-2, +2)	545,099 (-2, +2)
essv10897573	Remapped	Perfect	NC_000003.12:g.(48 5480_485484)_(5450 97_545101)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	485,482 (-2, +2)	545,099 (-2, +2)
essv10897568	Submitted genomic		NC_000003.11:g.(52 7163_527167)_(5867 80_586784)del	GRCh37 (hg19)		NC_000003.11	Chr3	527,165 (-2, +2)	586,782 (-2, +2)
essv10897569	Submitted genomic		NC_000003.11:g.(52 7163_527167)_(5867 80_586784)del	GRCh37 (hg19)		NC_000003.11	Chr3	527,165 (-2, +2)	586,782 (-2, +2)
essv10897570	Submitted genomic		NC_000003.11:g.(52 7163_527167)_(5867 80_586784)del	GRCh37 (hg19)		NC_000003.11	Chr3	527,165 (-2, +2)	586,782 (-2, +2)
essv10897571	Submitted genomic		NC_000003.11:g.(52 7163_527167)_(5867 80_586784)del	GRCh37 (hg19)		NC_000003.11	Chr3	527,165 (-2, +2)	586,782 (-2, +2)
essv10897572	Submitted genomic		NC_000003.11:g.(52 7163_527167)_(5867 80_586784)del	GRCh37 (hg19)		NC_000003.11	Chr3	527,165 (-2, +2)	586,782 (-2, +2)
essv10897573	Submitted genomic		NC_000003.11:g.(52 7163_527167)_(5867 80_586784)del	GRCh37 (hg19)		NC_000003.11	Chr3	527,165 (-2, +2)	586,782 (-2, +2)

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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