esv3978843

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:12
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):70,949,298-71,057,848

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
esv3978843	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	70,949,298	71,057,848
esv3978843	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	70,983,201	71,091,751

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
essv25951140	duplication	DGMQ-32056	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,667
essv25979036	duplication	DGMQ-31872	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,597
essv25908289	duplication	DGMQ-31611	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,480
essv26010671	duplication	DGMQ-31601	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,666
essv26008854	duplication	DGMQ-31552	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,615
essv25909970	duplication	DGMQ-32368	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,513
essv25941881	duplication	DGMQ-32325	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,499
essv25961690	duplication	DGMQ-31497	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,530
essv25963448	duplication	DGMQ-32977	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,525
essv25993201	duplication	DGMQ-31537	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,606
essv26026170	duplication	DGMQ-31582	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,592
essv26043671	duplication	DGMQ-31226	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,486

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
essv25951140	Remapped	Perfect	NC_000016.10:g.(70 949298_?)_(?_71057 798)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,298	71,057,798
essv25979036	Remapped	Perfect	NC_000016.10:g.(70 949298_?)_(?_71057 798)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,298	71,057,798
essv25908289	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
essv26010671	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
essv26008854	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
essv25909970	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
essv25941881	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
essv25961690	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
essv25963448	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
essv25993201	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
essv26026170	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
essv26043671	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
essv25951140	Submitted genomic		NC_000016.9:g.(709 83201_?)_(?_710917 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,201	71,091,701
essv25979036	Submitted genomic		NC_000016.9:g.(709 83201_?)_(?_710917 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,201	71,091,701
essv25908289	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710917 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,701
essv26010671	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710917 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,701
essv26008854	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,751
essv25909970	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,701
essv25941881	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,701
essv25961690	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,701
essv25963448	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,701
essv25993201	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,701
essv26026170	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,751
essv26043671	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,751

dbVar

Database of genomic structural variation

esv3978843

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