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dbVar

Database of genomic structural variation

esv1830182

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:186,886

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

Remapped(Score: Perfect):167,887,011-168,073,896

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
esv1830182	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	167,887,011	167,888,672	168,070,673	168,073,896
esv1830182	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	168,808,162	168,809,823	168,991,824	168,995,047
esv1830182	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000004.10	Chr4	169,044,737	169,046,398	169,228,399	169,231,622

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv4421219	copy number gain	NA15510	Oligo aCGH	Probe signal intensity	8,621

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv4421219	Remapped	Perfect	NC_000004.12:g.(16 7887011_167888672) _(168070673_168073 896)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	167,887,011	167,888,672	168,070,673	168,073,896
essv4421219	Remapped	Perfect	NC_000004.11:g.(16 8808162_168809823) _(168991824_168995 047)dup	GRCh37.p13	First Pass	NC_000004.11	Chr4	168,808,162	168,809,823	168,991,824	168,995,047
essv4421219	Submitted genomic		NC_000004.10:g.(16 9044737_169046398) _(169228399_169231 622)dup	NCBI36 (hg18)		NC_000004.10	Chr4	169,044,737	169,046,398	169,228,399	169,231,622

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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