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dbVar

Database of genomic structural variation

esv3584947

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:8,059

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: 702 SVs from 73 studies. See in: genome view

Remapped(Score: Perfect):67,291,970-67,300,028

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv3584947	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	67,291,970	67,300,028
esv3584947	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	64,959,207	64,967,265
esv3584947	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000018.8	Chr18	63,110,187	63,118,245

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv9838154	copy number gain	OA017	SNP array	Probe signal intensity	22
essv9838155	copy number gain	OA003	SNP array	Probe signal intensity	19

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv9838154	Remapped	Perfect	NC_000018.10:g.(?_ 67291970)_(6730002 8_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,291,970	67,300,028
essv9838155	Remapped	Perfect	NC_000018.10:g.(?_ 67291970)_(6730002 8_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,291,970	67,300,028
essv9838154	Remapped	Perfect	NC_000018.9:g.(?_6 4959207)_(64967265 _?)dup	GRCh37.p13	First Pass	NC_000018.9	Chr18	64,959,207	64,967,265
essv9838155	Remapped	Perfect	NC_000018.9:g.(?_6 4959207)_(64967265 _?)dup	GRCh37.p13	First Pass	NC_000018.9	Chr18	64,959,207	64,967,265
essv9838154	Submitted genomic		NC_000018.8:g.(?_6 3110187)_(63118245 _?)dup	NCBI36 (hg18)		NC_000018.8	Chr18	63,110,187	63,118,245
essv9838155	Submitted genomic		NC_000018.8:g.(?_6 3110187)_(63118245 _?)dup	NCBI36 (hg18)		NC_000018.8	Chr18	63,110,187	63,118,245

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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