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dbVar

Database of genomic structural variation

esv3973766

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:3
Validation:Not tested
Clinical Assertions: No
Region Size:2,250

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: 357 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):6,649,724-6,651,973

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
esv3973766	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	6,649,724	6,651,973
esv3973766	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	6,651,451	6,653,700

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
essv25995241	duplication	DGMQ-31529	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,515
essv26010995	duplication	DGMQ-31601	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,666
essv26046320	duplication	DGMQ-32145	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,532

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
essv25995241	Remapped	Perfect	NC_000004.12:g.(66 49724_?)_(?_665197 3)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	6,649,724	6,651,973
essv26010995	Remapped	Perfect	NC_000004.12:g.(66 49724_?)_(?_665197 3)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	6,649,724	6,651,973
essv26046320	Remapped	Perfect	NC_000004.12:g.(66 49724_?)_(?_665197 3)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	6,649,724	6,651,973
essv25995241	Submitted genomic		NC_000004.11:g.(66 51451_?)_(?_665370 0)dup	GRCh37 (hg19)		NC_000004.11	Chr4	6,651,451	6,653,700
essv26010995	Submitted genomic		NC_000004.11:g.(66 51451_?)_(?_665370 0)dup	GRCh37 (hg19)		NC_000004.11	Chr4	6,651,451	6,653,700
essv26046320	Submitted genomic		NC_000004.11:g.(66 51451_?)_(?_665370 0)dup	GRCh37 (hg19)		NC_000004.11	Chr4	6,651,451	6,653,700

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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