esv3978846

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:13
Validation:Not tested
Clinical Assertions: No
Region Size:108,551

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: 647 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):70,949,348-71,057,898

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
esv3978846	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	70,949,348	71,057,898
esv3978846	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	70,983,251	71,091,801

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
essv25924045	duplication	DGMQ-31036	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,631
essv25932869	duplication	DGMQ-32251	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,647
essv25927507	duplication	DGMQ-32160	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,682
essv25929315	duplication	DGMQ-32371	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,493
essv25947239	duplication	DGMQ-32309	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,760
essv25915166	duplication	DGMQ-31643	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,512
essv26012500	duplication	DGMQ-32285	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,598
essv25908239	duplication	DGMQ-31425	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,581
essv25980774	duplication	DGMQ-32060	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,610
essv25894346	duplication	DGMQ-31058	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,740
essv25916893	duplication	DGMQ-31406	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,602
essv25920296	duplication	DGMQ-31583	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,709
essv25931010	duplication	DGMQ-32220	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,685

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
essv25924045	Remapped	Perfect	NC_000016.10:g.(70 949348_?)_(?_71057 848)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,348	71,057,848
essv25932869	Remapped	Perfect	NC_000016.10:g.(70 949348_?)_(?_71057 848)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,348	71,057,848
essv25927507	Remapped	Perfect	NC_000016.10:g.(70 949398_?)_(?_71057 748)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,398	71,057,748
essv25929315	Remapped	Perfect	NC_000016.10:g.(70 949398_?)_(?_71057 748)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,398	71,057,748
essv25947239	Remapped	Perfect	NC_000016.10:g.(70 949398_?)_(?_71057 748)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,398	71,057,748
essv25915166	Remapped	Perfect	NC_000016.10:g.(70 949398_?)_(?_71057 798)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,398	71,057,798
essv26012500	Remapped	Perfect	NC_000016.10:g.(70 949398_?)_(?_71057 848)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,398	71,057,848
essv25908239	Remapped	Perfect	NC_000016.10:g.(70 949448_?)_(?_71057 748)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,448	71,057,748
essv25980774	Remapped	Perfect	NC_000016.10:g.(70 949448_?)_(?_71057 798)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,448	71,057,798
essv25894346	Remapped	Perfect	NC_000016.10:g.(70 949448_?)_(?_71057 848)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,448	71,057,848
essv25916893	Remapped	Perfect	NC_000016.10:g.(70 949448_?)_(?_71057 848)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,448	71,057,848
essv25920296	Remapped	Perfect	NC_000016.10:g.(70 949448_?)_(?_71057 848)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,448	71,057,848
essv25931010	Remapped	Perfect	NC_000016.10:g.(70 949448_?)_(?_71057 898)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,448	71,057,898
essv25924045	Submitted genomic		NC_000016.9:g.(709 83251_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,251	71,091,751
essv25932869	Submitted genomic		NC_000016.9:g.(709 83251_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,251	71,091,751
essv25927507	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710916 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,651
essv25929315	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710916 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,651
essv25947239	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710916 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,651
essv25915166	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710917 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,701
essv26012500	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,751
essv25908239	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710916 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,651
essv25980774	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,701
essv25894346	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,751
essv25916893	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,751
essv25920296	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,751
essv25931010	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710918 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,801

dbVar

Database of genomic structural variation

esv3978846

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

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