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dbVar

Database of genomic structural variation

esv1809205

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:199,051

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: 935 SVs from 91 studies. See in: genome view

Remapped(Score: Perfect):167,875,974-168,075,024

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
esv1809205	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	167,875,974	167,889,044	168,066,057	168,075,024
esv1809205	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	168,797,125	168,810,195	168,987,208	168,996,175
esv1809205	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000004.10	Chr4	169,033,700	169,046,770	169,223,783	169,232,750

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv4424370	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
essv4424370	Remapped	Perfect	NC_000004.12:g.(16 7875974_167889044) _(168066057_168075 024)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	167,875,974	167,889,044	168,066,057	168,075,024
essv4424370	Remapped	Perfect	NC_000004.11:g.(16 8797125_168810195) _(168987208_168996 175)dup	GRCh37.p13	First Pass	NC_000004.11	Chr4	168,797,125	168,810,195	168,987,208	168,996,175
essv4424370	Submitted genomic		NC_000004.10:g.(16 9033700_169046770) _(169223783_169232 750)dup	NCBI36 (hg18)		NC_000004.10	Chr4	169,033,700	169,046,770	169,223,783	169,232,750

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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