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dbVar

Database of genomic structural variation

esv1801309

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,773,810

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: 8471 SVs from 115 studies. See in: genome view

Remapped(Score: Pass):32,055,446-33,829,255

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv1801309	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	32,055,446	33,829,255
esv1801309	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	32,066,767	33,631,722
esv1801309	Remapped	Good	GRCh37.p13	PATCHES	Second Pass	NW_003871055.3	Chr1\|NW_00 3871055.3	103,116	1,641,917
esv1801309	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000016.8	Chr16	31,974,268	33,539,223

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv4368363	copy number gain	NA12239	Oligo aCGH	Probe signal intensity	12,430

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv4368363	Remapped	Pass	NC_000016.10:g.(?_ 32055446)_(3382925 5_?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	32,055,446	33,829,255
essv4368363	Remapped	Good	NW_003871055.3:g.( ?_103116)_(1641917 _?)dup	GRCh37.p13	Second Pass	NW_003871055.3	Chr1\|NW_00 3871055.3	103,116	1,641,917
essv4368363	Remapped	Perfect	NC_000016.9:g.(?_3 2066767)_(33631722 _?)dup	GRCh37.p13	First Pass	NC_000016.9	Chr16	32,066,767	33,631,722
essv4368363	Submitted genomic		NC_000016.8:g.(?_3 1974268)_(33539223 _?)dup	NCBI36 (hg18)		NC_000016.8	Chr16	31,974,268	33,539,223

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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