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

dbVar

Database of genomic structural variation

esv3105997

Organism: Homo sapiens

Study:estd209 (Pang et al. 2014b)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:2

Publication(s):Pang et al. 2014

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: 139 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):123,566,669-123,566,670

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3105997	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	123,566,669	123,566,670
esv3105997	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	123,206,723	123,206,724

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv7375564	deletion	HuRef	Sequencing	Split read mapping	Heterozygous	471,817

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv7375564	Remapped	Perfect	NC_000007.14:g.123 566669_123566670de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	123,566,669	123,566,670
essv7375564	Submitted genomic		NC_000007.13:g.123 206723_123206724de l	GRCh37 (hg19)		NC_000007.13	Chr7	123,206,723	123,206,724

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