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dbVar

Database of genomic structural variation

esv17005

Organism: Homo sapiens

Study:estd20 (Conrad et al. 2009)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:2
Validation:Yes
Clinical Assertions: No
Region Size:90,341

Publication(s):Conrad et al. 2009

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: 653 SVs from 72 studies. See in: genome view

Remapped(Score: Perfect):30,185,378-30,275,718

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv17005	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	30,185,378	30,275,718
esv17005	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	29,420,054	29,510,394
esv17005	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000020.9	Chr20	28,033,715	28,124,055

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv46647	copy number loss	NA19129	Oligo aCGH	Probe signal intensity	1,564
essv79621	copy number loss	NA12749	Oligo aCGH	Probe signal intensity	1,232

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv46647	Remapped	Perfect	NC_000020.11:g.(?_ 30185378)_(3027426 7_?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	30,185,378	30,274,267
essv79621	Remapped	Perfect	NC_000020.11:g.(?_ 30185378)_(3027571 8_?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	30,185,378	30,275,718
essv46647	Remapped	Perfect	NC_000020.10:g.(?_ 29420054)_(2950894 3_?)del	GRCh37.p13	First Pass	NC_000020.10	Chr20	29,420,054	29,508,943
essv79621	Remapped	Perfect	NC_000020.10:g.(?_ 29420054)_(2951039 4_?)del	GRCh37.p13	First Pass	NC_000020.10	Chr20	29,420,054	29,510,394
essv46647	Submitted genomic		NC_000020.9:g.(?_2 8033715)_(28122604 _?)del	NCBI36 (hg18)		NC_000020.9	Chr20	28,033,715	28,122,604
essv79621	Submitted genomic		NC_000020.9:g.(?_2 8033715)_(28124055 _?)del	NCBI36 (hg18)		NC_000020.9	Chr20	28,033,715	28,124,055

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv79621	2	NA12749	Oligo aCGH	Probe signal intensity	Pass
essv46647	2	NA19129	Oligo aCGH	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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