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dbVar

Database of genomic structural variation

esv3584625

Organism: Homo sapiens

Study:estd213 (Mokhtar et al. 2014)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:86,517

Publication(s):Mokhtar et al. 2014

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: 789 SVs from 78 studies. See in: genome view

Remapped(Score: Perfect):4,228,783-4,315,299

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv3584625	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	4,228,783	4,315,299
esv3584625	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	4,250,013	4,336,529
esv3584625	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000011.8	Chr11	4,206,589	4,293,105

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv9838754	copy number loss	OA018	SNP array	Probe signal intensity	25
essv9838755	copy number loss	OA016	SNP array	Probe signal intensity	31
essv9838757	copy number loss	8S	SNP array	Probe signal intensity	39

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv9838754	Remapped	Perfect	NC_000011.10:g.(?_ 4228783)_(4315299_ ?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	4,228,783	4,315,299
essv9838755	Remapped	Perfect	NC_000011.10:g.(?_ 4228783)_(4315299_ ?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	4,228,783	4,315,299
essv9838757	Remapped	Perfect	NC_000011.10:g.(?_ 4228783)_(4315299_ ?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	4,228,783	4,315,299
essv9838754	Remapped	Perfect	NC_000011.9:g.(?_4 250013)_(4336529_? )del	GRCh37.p13	First Pass	NC_000011.9	Chr11	4,250,013	4,336,529
essv9838755	Remapped	Perfect	NC_000011.9:g.(?_4 250013)_(4336529_? )del	GRCh37.p13	First Pass	NC_000011.9	Chr11	4,250,013	4,336,529
essv9838757	Remapped	Perfect	NC_000011.9:g.(?_4 250013)_(4336529_? )del	GRCh37.p13	First Pass	NC_000011.9	Chr11	4,250,013	4,336,529
essv9838754	Submitted genomic		NC_000011.8:g.(?_4 206589)_(4293105_? )del	NCBI36 (hg18)		NC_000011.8	Chr11	4,206,589	4,293,105
essv9838755	Submitted genomic		NC_000011.8:g.(?_4 206589)_(4293105_? )del	NCBI36 (hg18)		NC_000011.8	Chr11	4,206,589	4,293,105
essv9838757	Submitted genomic		NC_000011.8:g.(?_4 206589)_(4293105_? )del	NCBI36 (hg18)		NC_000011.8	Chr11	4,206,589	4,293,105

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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