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dbVar

Database of genomic structural variation

esv13922

Organism: Homo sapiens

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

Variant Calls:4
Validation:Yes
Clinical Assertions: No
Region Size:52,255

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: 3799 SVs from 95 studies. See in: genome view

Remapped(Score: Perfect):20,376,661-20,428,915

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv13922	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	20,376,661	20,428,915
esv13922	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	20,581,914	20,634,168
esv13922	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000015.8	Chr15	18,841,928	18,894,182

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv45029	copy number loss	NA12489	Oligo aCGH	Probe signal intensity	1,098
essv49005	copy number gain	NA07037	Oligo aCGH	Probe signal intensity	1,154
essv59323	copy number loss	NA19108	Oligo aCGH	Probe signal intensity	1,563
essv63474	copy number gain	NA15510	Oligo aCGH	Probe signal intensity	1,307

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv45029	Remapped	Perfect	NC_000015.10:g.(?_ 20376661)_(2042891 5_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	20,376,661	20,428,915
essv49005	Remapped	Perfect	NC_000015.10:g.(?_ 20383251)_(2042882 2_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	20,383,251	20,428,822
essv59323	Remapped	Perfect	NC_000015.10:g.(?_ 20384739)_(2042891 5_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	20,384,739	20,428,915
essv63474	Remapped	Perfect	NC_000015.10:g.(?_ 20384777)_(2042882 2_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	20,384,777	20,428,822
essv45029	Remapped	Perfect	NC_000015.9:g.(?_2 0581914)_(20634168 _?)del	GRCh37.p13	First Pass	NC_000015.9	Chr15	20,581,914	20,634,168
essv49005	Remapped	Perfect	NC_000015.9:g.(?_2 0588504)_(20634075 _?)dup	GRCh37.p13	First Pass	NC_000015.9	Chr15	20,588,504	20,634,075
essv59323	Remapped	Perfect	NC_000015.9:g.(?_2 0589992)_(20634168 _?)del	GRCh37.p13	First Pass	NC_000015.9	Chr15	20,589,992	20,634,168
essv63474	Remapped	Perfect	NC_000015.9:g.(?_2 0590030)_(20634075 _?)dup	GRCh37.p13	First Pass	NC_000015.9	Chr15	20,590,030	20,634,075
essv45029	Submitted genomic		NC_000015.8:g.(?_1 8841928)_(18894182 _?)del	NCBI36 (hg18)		NC_000015.8	Chr15	18,841,928	18,894,182
essv49005	Submitted genomic		NC_000015.8:g.(?_1 8848518)_(18894089 _?)dup	NCBI36 (hg18)		NC_000015.8	Chr15	18,848,518	18,894,089
essv59323	Submitted genomic		NC_000015.8:g.(?_1 8850006)_(18894182 _?)del	NCBI36 (hg18)		NC_000015.8	Chr15	18,850,006	18,894,182
essv63474	Submitted genomic		NC_000015.8:g.(?_1 8850044)_(18894089 _?)dup	NCBI36 (hg18)		NC_000015.8	Chr15	18,850,044	18,894,089

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv49005	2	NA07037	Oligo aCGH	Probe signal intensity	Pass
essv45029	2	NA12489	Oligo aCGH	Probe signal intensity	Pass
essv63474	2	NA15510	Oligo aCGH	Probe signal intensity	Pass
essv59323	2	NA19108	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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