Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv2263886

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:13,095

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

Remapped(Score: Perfect):55,146,116-55,159,210

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
esv2263886	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	55,146,116	55,146,217	55,159,130	55,159,210
esv2263886	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	55,172,549	55,172,650	55,185,563	55,185,643
esv2263886	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000023.9	ChrX	55,189,274	55,189,375	55,202,288	55,202,368

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv4854401	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
essv4854401	Remapped	Perfect	NC_000023.11:g.(55 146116_55146217)_( 55159130_55159210) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	55,146,116	55,146,217	55,159,130	55,159,210
essv4854401	Remapped	Perfect	NC_000023.10:g.(55 172549_55172650)_( 55185563_55185643) del	GRCh37.p13	First Pass	NC_000023.10	ChrX	55,172,549	55,172,650	55,185,563	55,185,643
essv4854401	Submitted genomic		NC_000023.9:g.(551 89274_55189375)_(5 5202288_55202368)d el	NCBI36 (hg18)		NC_000023.9	ChrX	55,189,274	55,189,375	55,202,288	55,202,368

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

You are here: NCBI