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dbVar

Database of genomic structural variation

esv1846447

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:1,609,268

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: 8042 SVs from 114 studies. See in: genome view

Remapped(Score: Pass):32,422,311-34,031,578

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
esv1846447	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	32,422,311	34,031,578	34,031,578
esv1846447	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	32,433,632	33,807,760	33,834,045
esv1846447	Remapped	Pass	GRCh37.p13	PATCHES	Second Pass	NW_003871055.3	Chr1\|NW_00 3871055.3	103,116	1,641,917	-
esv1846447	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000016.8	Chr16	32,341,133	33,715,261	33,741,546

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv4378980	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	Inner Start	Inner Stop	Outer Stop
essv4378980	Remapped	Pass	NC_000016.10:g.(?_ 32422311)_(3403157 8_34031578)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	32,422,311	34,031,578	34,031,578
essv4378980	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	-
essv4378980	Remapped	Perfect	NC_000016.9:g.(?_3 2433632)_(33807760 _33834045)dup	GRCh37.p13	First Pass	NC_000016.9	Chr16	32,433,632	33,807,760	33,834,045
essv4378980	Submitted genomic		NC_000016.8:g.(?_3 2341133)_(33715261 _33741546)dup	NCBI36 (hg18)		NC_000016.8	Chr16	32,341,133	33,715,261	33,741,546

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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