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dbVar

Database of genomic structural variation

esv3994827

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:197,475

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: 709 SVs from 53 studies. See in: genome view

Remapped(Score: Perfect):35,809,810-36,007,284

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv3994827	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	35,809,810	36,007,284
esv3994827	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	35,827,927	36,025,401

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Copy number	Other Calls in this Sample and Study
essv26051401	copy number gain	SLI_144_3	SNP array	Probe signal intensity	Specific language impairment 1	3	13

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv26051401	Remapped	Perfect	NC_000023.11:g.(?_ 35809810)_(3600728 4_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	35,809,810	36,007,284
essv26051401	Submitted genomic		NC_000023.10:g.(?_ 35827927)_(3602540 1_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	35,827,927	36,025,401

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv26051401	2	SLI_144_3	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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