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dbVar

Database of genomic structural variation

esv3642869

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:253,640

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: 1345 SVs from 79 studies. See in: genome view

Remapped(Score: Perfect):66,414,779-66,668,434

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3642869	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	66,414,787 (-8, +8)	66,668,426 (-8, +8)
esv3642869	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	64,082,024 (-8, +8)	64,335,663 (-8, +8)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv15916389	deletion	SAMN01761612	Sequencing	Read depth and paired-end mapping	Heterozygous	2,789
essv15916390	deletion	SAMN00006409	Sequencing	Read depth and paired-end mapping	Heterozygous	2,477
essv15916391	deletion	SAMN01090784	Sequencing	Read depth and paired-end mapping	Heterozygous	2,819

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv15916389	Remapped	Perfect	NC_000018.10:g.(66 414779_66414795)_( 66668418_66668434) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	66,414,787 (-8, +8)	66,668,426 (-8, +8)
essv15916390	Remapped	Perfect	NC_000018.10:g.(66 414779_66414795)_( 66668418_66668434) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	66,414,787 (-8, +8)	66,668,426 (-8, +8)
essv15916391	Remapped	Perfect	NC_000018.10:g.(66 414779_66414795)_( 66668418_66668434) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	66,414,787 (-8, +8)	66,668,426 (-8, +8)
essv15916389	Submitted genomic		NC_000018.9:g.(640 82016_64082032)_(6 4335655_64335671)d el	GRCh37 (hg19)		NC_000018.9	Chr18	64,082,024 (-8, +8)	64,335,663 (-8, +8)
essv15916390	Submitted genomic		NC_000018.9:g.(640 82016_64082032)_(6 4335655_64335671)d el	GRCh37 (hg19)		NC_000018.9	Chr18	64,082,024 (-8, +8)	64,335,663 (-8, +8)
essv15916391	Submitted genomic		NC_000018.9:g.(640 82016_64082032)_(6 4335655_64335671)d el	GRCh37 (hg19)		NC_000018.9	Chr18	64,082,024 (-8, +8)	64,335,663 (-8, +8)

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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