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dbVar

Database of genomic structural variation

esv1827287

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:193,598

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

Remapped(Score: Perfect):167,887,011-168,080,608

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
esv1827287	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	167,887,011	167,889,044	168,070,673	168,080,608
esv1827287	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	168,808,162	168,810,195	168,991,824	169,001,759
esv1827287	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000004.10	Chr4	169,044,737	169,046,770	169,228,399	169,238,334

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv4422774	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
essv4422774	Remapped	Perfect	NC_000004.12:g.(16 7887011_167889044) _(168070673_168080 608)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	167,887,011	167,889,044	168,070,673	168,080,608
essv4422774	Remapped	Perfect	NC_000004.11:g.(16 8808162_168810195) _(168991824_169001 759)dup	GRCh37.p13	First Pass	NC_000004.11	Chr4	168,808,162	168,810,195	168,991,824	169,001,759
essv4422774	Submitted genomic		NC_000004.10:g.(16 9044737_169046770) _(169228399_169238 334)dup	NCBI36 (hg18)		NC_000004.10	Chr4	169,044,737	169,046,770	169,228,399	169,238,334

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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