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dbVar

Database of genomic structural variation

esv1843648

Organism: Homo sapiens

Study:estd188 (Pinto et al. 2011)
Variant Type:copy number variation
Method Type:BAC aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,162,797

Publication(s):Pinto et al. 2011

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: 5739 SVs from 107 studies. See in: genome view

Remapped(Score: Pass):32,422,311-33,585,107

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
esv1843648	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	32,422,311	32,422,311	33,585,107	33,585,107
esv1843648	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	32,433,632	32,539,175	33,328,015	33,387,574
esv1843648	Remapped	Pass	GRCh37.p13	PATCHES	Second Pass	NW_003871055.3	Chr1\|NW_00 3871055.3	-	103,116	1,641,917	-
esv1843648	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000016.8	Chr16	32,341,133	32,446,676	33,235,516	33,295,075

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv4379484	copy number gain	NA18980	BAC aCGH	Probe signal intensity	9,229

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv4379484	Remapped	Pass	NC_000016.10:g.(32 422311_32422311)_( 33585107_33585107) dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	32,422,311	32,422,311	33,585,107	33,585,107
essv4379484	Remapped	Pass	NW_003871055.3:g.( ?_103116)_(1641917 _?)dup	GRCh37.p13	Second Pass	NW_003871055.3	Chr1\|NW_00 3871055.3	-	103,116	1,641,917	-
essv4379484	Remapped	Perfect	NC_000016.9:g.(324 33632_32539175)_(3 3328015_33387574)d up	GRCh37.p13	First Pass	NC_000016.9	Chr16	32,433,632	32,539,175	33,328,015	33,387,574
essv4379484	Submitted genomic		NC_000016.8:g.(323 41133_32446676)_(3 3235516_33295075)d up	NCBI36 (hg18)		NC_000016.8	Chr16	32,341,133	32,446,676	33,235,516	33,295,075

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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