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dbVar

Database of genomic structural variation

esv3994872

Organism: Homo sapiens

Study:estd218 (Simpson et al. 2015)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Yes
Clinical Assertions: No
Region Size:119,533

Publication(s):Simpson et al. 2015

Links to Other Resources

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: 342 SVs from 43 studies. See in: genome view

Remapped(Score: Perfect):61,459,105-61,578,637

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv3994872	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	61,459,105	61,578,637
esv3994872	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	61,751,304	61,870,836

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Copy number	Other Calls in this Sample and Study
essv26051442	copy number gain	SLI_148_2	SNP array	Probe signal intensity	Specific language impairment 1	3	17

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv26051442	Remapped	Perfect	NC_000015.10:g.(?_ 61459105)_(6157863 7_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	61,459,105	61,578,637
essv26051442	Submitted genomic		NC_000015.9:g.(?_6 1751304)_(61870836 _?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	61,751,304	61,870,836

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv26051442	2	SLI_148_2	qPCR	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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