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dbVar

Database of genomic structural variation

esv3987125

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:4
Validation:Not tested
Clinical Assertions: No
Region Size:12,150

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: 779 SVs from 71 studies. See in: genome view

Remapped(Score: Perfect):45,573,085-45,585,234

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
esv3987125	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	45,573,085	45,585,234
esv3987125	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	275,224	287,373
esv3987125	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	43,650,451	43,662,600

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
essv25930400	deletion	DGMQ-32220	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,685
essv25946595	deletion	DGMQ-32309	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,760
essv26011912	deletion	DGMQ-32285	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,598
essv25912853	deletion	DGMQ-32311	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,571

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
essv25930400	Remapped	Perfect	NT_187663.1:g.(275 224_?)_(?_286923)d el	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	275,224	286,923
essv25946595	Remapped	Perfect	NT_187663.1:g.(275 674_?)_(?_286923)d el	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	275,674	286,923
essv26011912	Remapped	Perfect	NT_187663.1:g.(275 674_?)_(?_286923)d el	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	275,674	286,923
essv25912853	Remapped	Perfect	NT_187663.1:g.(275 674_?)_(?_287373)d el	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	275,674	287,373
essv25930400	Remapped	Perfect	NC_000017.11:g.(45 573085_?)_(?_45584 784)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	45,573,085	45,584,784
essv25946595	Remapped	Perfect	NC_000017.11:g.(45 573535_?)_(?_45584 784)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	45,573,535	45,584,784
essv26011912	Remapped	Perfect	NC_000017.11:g.(45 573535_?)_(?_45584 784)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	45,573,535	45,584,784
essv25912853	Remapped	Perfect	NC_000017.11:g.(45 573535_?)_(?_45585 234)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	45,573,535	45,585,234
essv25930400	Submitted genomic		NC_000017.10:g.(43 650451_?)_(?_43662 150)del	GRCh37 (hg19)		NC_000017.10	Chr17	43,650,451	43,662,150
essv25946595	Submitted genomic		NC_000017.10:g.(43 650901_?)_(?_43662 150)del	GRCh37 (hg19)		NC_000017.10	Chr17	43,650,901	43,662,150
essv26011912	Submitted genomic		NC_000017.10:g.(43 650901_?)_(?_43662 150)del	GRCh37 (hg19)		NC_000017.10	Chr17	43,650,901	43,662,150
essv25912853	Submitted genomic		NC_000017.10:g.(43 650901_?)_(?_43662 600)del	GRCh37 (hg19)		NC_000017.10	Chr17	43,650,901	43,662,600

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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