Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv1847207

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:3,079,845

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: 14034 SVs from 124 studies. See in: genome view

Remapped(Score: Pass):31,923,513-35,003,357

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
esv1847207	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	31,923,513	31,923,513	35,003,357	35,003,357
esv1847207	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	31,934,834	31,934,834	34,237,728	34,237,728
esv1847207	Remapped	Pass	GRCh37.p13	PATCHES	Second Pass	NW_003871055.3	Chr1\|NW_00 3871055.3	-	103,116	1,641,917	-
esv1847207	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000016.8	Chr16	31,842,335	31,862,577	34,059,589	34,095,229

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv4368522	copy number gain	NA18980	Oligo 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
essv4368522	Remapped	Pass	NC_000016.10:g.(31 923513_31923513)_( 35003357_35003357) dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	31,923,513	31,923,513	35,003,357	35,003,357
essv4368522	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	-
essv4368522	Remapped	Good	NC_000016.9:g.(319 34834_31934834)_(3 4237728_34237728)d up	GRCh37.p13	First Pass	NC_000016.9	Chr16	31,934,834	31,934,834	34,237,728	34,237,728
essv4368522	Submitted genomic		NC_000016.8:g.(318 42335_31862577)_(3 4059589_34095229)d up	NCBI36 (hg18)		NC_000016.8	Chr16	31,842,335	31,862,577	34,059,589	34,095,229

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

You are here: NCBI