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

dbVar

Database of genomic structural variation

esv3984413

Organism: Homo sapiens

Study:estd229 (Fakhro et al. 2015)
Variant Type:copy number variation
Method Type:SNP array, Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:105,300

Publication(s):Fakhro et al. 2015

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: 395 SVs from 58 studies. See in: genome view

Remapped(Score: Perfect):97,705,201-97,810,500

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
esv3984413	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	97,705,201	97,810,500
esv3984413	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	97,576,201	97,681,500

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
essv26030464	deletion	DGMQ-31274	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,454
essv26041093	deletion	DGMQ-31516	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,622

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
essv26030464	Remapped	Perfect	NC_000011.10:g.(97 705201_?)_(?_97810 500)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	97,705,201	97,810,500
essv26041093	Remapped	Perfect	NC_000011.10:g.(97 705651_?)_(?_97810 050)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	97,705,651	97,810,050
essv26030464	Submitted genomic		NC_000011.9:g.(975 76201_?)_(?_976815 00)del	GRCh37 (hg19)		NC_000011.9	Chr11	97,576,201	97,681,500
essv26041093	Submitted genomic		NC_000011.9:g.(975 76651_?)_(?_976810 50)del	GRCh37 (hg19)		NC_000011.9	Chr11	97,576,651	97,681,050

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