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dbVar

Database of genomic structural variation

esv1805160

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:195,370

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: 892 SVs from 90 studies. See in: genome view

Remapped(Score: Perfect):167,885,682-168,081,051

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
esv1805160	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	167,885,682	167,887,011	168,066,057	168,081,051
esv1805160	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	168,806,833	168,808,162	168,987,208	169,002,202
esv1805160	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000004.10	Chr4	169,043,408	169,044,737	169,223,783	169,238,777

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv4422141	copy number gain	NA18517	Oligo aCGH	Probe signal intensity	11,001

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv4422141	Remapped	Perfect	NC_000004.12:g.(16 7885682_167887011) _(168066057_168081 051)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	167,885,682	167,887,011	168,066,057	168,081,051
essv4422141	Remapped	Perfect	NC_000004.11:g.(16 8806833_168808162) _(168987208_169002 202)dup	GRCh37.p13	First Pass	NC_000004.11	Chr4	168,806,833	168,808,162	168,987,208	169,002,202
essv4422141	Submitted genomic		NC_000004.10:g.(16 9043408_169044737) _(169223783_169238 777)dup	NCBI36 (hg18)		NC_000004.10	Chr4	169,043,408	169,044,737	169,223,783	169,238,777

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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