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dbVar

Database of genomic structural variation

esv2295153

Organism: Homo sapiens

Study:estd194 (Bentley et al. 2008)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:14,967

Publication(s):Bentley et al. 2008

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: 448 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):55,146,208-55,161,174

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
esv2295153	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	55,146,208	55,146,279	55,161,131	55,161,174
esv2295153	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	55,172,641	55,172,712	55,187,564	55,187,607
esv2295153	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000023.9	ChrX	55,189,366	55,189,437	55,204,289	55,204,332

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv4753657	deletion	NA18507	Sequencing	Paired-end mapping	504,912

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv4753657	Remapped	Perfect	NC_000023.11:g.(55 146208_55146279)_( 55161131_55161174) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	55,146,208	55,146,279	55,161,131	55,161,174
essv4753657	Remapped	Perfect	NC_000023.10:g.(55 172641_55172712)_( 55187564_55187607) del	GRCh37.p13	First Pass	NC_000023.10	ChrX	55,172,641	55,172,712	55,187,564	55,187,607
essv4753657	Submitted genomic		NC_000023.9:g.(551 89366_55189437)_(5 5204289_55204332)d el	NCBI36 (hg18)		NC_000023.9	ChrX	55,189,366	55,189,437	55,204,289	55,204,332

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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