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dbVar

Database of genomic structural variation

esv18275

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:51,843

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: 295 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):30,294,182-30,346,024

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv18275	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	30,294,182	30,346,024
esv18275	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	29,528,858	29,580,700
esv18275	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000020.9	Chr20	28,142,519	28,194,361

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv71139	copy number gain	NA18916	Oligo aCGH	Probe signal intensity	1,538
essv45447	copy number loss	NA19129	Oligo aCGH	Probe signal intensity	1,564

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv71139	Remapped	Perfect	NC_000020.11:g.(?_ 30294182)_(3034127 2_?)dup	GRCh38.p12	First Pass	NC_000020.11	Chr20	30,294,182	30,341,272
essv45447	Remapped	Perfect	NC_000020.11:g.(?_ 30299487)_(3034602 4_?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	30,299,487	30,346,024
essv71139	Remapped	Perfect	NC_000020.10:g.(?_ 29528858)_(2957594 8_?)dup	GRCh37.p13	First Pass	NC_000020.10	Chr20	29,528,858	29,575,948
essv45447	Remapped	Perfect	NC_000020.10:g.(?_ 29534163)_(2958070 0_?)del	GRCh37.p13	First Pass	NC_000020.10	Chr20	29,534,163	29,580,700
essv71139	Submitted genomic		NC_000020.9:g.(?_2 8142519)_(28189609 _?)dup	NCBI36 (hg18)		NC_000020.9	Chr20	28,142,519	28,189,609
essv45447	Submitted genomic		NC_000020.9:g.(?_2 8147824)_(28194361 _?)del	NCBI36 (hg18)		NC_000020.9	Chr20	28,147,824	28,194,361

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv71139	2	NA18916	Oligo aCGH	Probe signal intensity	Pass
essv45447	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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