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dbVar

Database of genomic structural variation

esv3977549

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:11,700

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: 62 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):181,353,750-181,365,449

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
esv3977549	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	181,353,750	181,365,449
esv3977549	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	180,780,751	180,792,450

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
essv25927038	deletion	DGMQ-32160	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,682
essv25928892	deletion	DGMQ-32371	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,493

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
essv25927038	Remapped	Perfect	NC_000005.10:g.(18 1353750_?)_(?_1813 65449)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,353,750	181,365,449
essv25928892	Remapped	Perfect	NC_000005.10:g.(18 1354200_?)_(?_1813 64099)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,354,200	181,364,099
essv25927038	Submitted genomic		NC_000005.9:g.(180 780751_?)_(?_18079 2450)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,780,751	180,792,450
essv25928892	Submitted genomic		NC_000005.9:g.(180 781201_?)_(?_18079 1100)del	GRCh37 (hg19)		NC_000005.9	Chr5	180,781,201	180,791,100

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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