esv3978845

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:39
Validation:Not tested
Clinical Assertions: No
Region Size:108,601

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):70,949,298-71,057,898

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
esv3978845	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	70,949,298	71,057,898
esv3978845	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	70,983,201	71,091,801

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
essv25901441	duplication	DGMQ-31607	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,655
essv25906621	duplication	DGMQ-31005	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,544
essv25940170	duplication	DGMQ-32293	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,587
essv25936621	duplication	DGMQ-32224	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,608
essv25991372	duplication	DGMQ-31449	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,630
essv26031413	duplication	DGMQ-32308	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,712
essv25943553	duplication	DGMQ-32273	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,592
essv25975441	duplication	DGMQ-31623	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,664
essv25904930	duplication	DGMQ-31237	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,475
essv25958373	duplication	DGMQ-31433	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,606
essv26015937	duplication	DGMQ-32200	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,679
essv26029675	duplication	DGMQ-31274	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,454
essv25953146	duplication	DGMQ-31639	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,641
essv25965169	duplication	DGMQ-31617	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,636
essv25966954	duplication	DGMQ-31556	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,506
essv25986205	duplication	DGMQ-31508	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,545
essv25993433	duplication	DGMQ-32182	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,451
essv26000107	duplication	DGMQ-31125	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,569
essv26003476	duplication	DGMQ-31444	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,542
essv26005250	duplication	DGMQ-32167	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,562
essv26007010	duplication	DGMQ-32121	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,702
essv25970323	duplication	DGMQ-31123	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,704
essv25959267	duplication	DGMQ-31177	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,445
essv26022845	duplication	DGMQ-31724	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,583
essv26033193	duplication	DGMQ-31717	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,423
essv25903237	duplication	DGMQ-32215	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,575
essv25926216	duplication	DGMQ-32061	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,712
essv25944227	duplication	DGMQ-31131	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,468
essv25989664	duplication	DGMQ-32148	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,526
essv25896274	duplication	DGMQ-31230	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,666
essv25973758	duplication	DGMQ-31416	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,428
essv26012221	duplication	DGMQ-31129	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,496
essv26019405	duplication	DGMQ-31470	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,613
essv26021153	duplication	DGMQ-32302	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,531
essv26034925	duplication	DGMQ-31606	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,677
essv26040247	duplication	DGMQ-31516	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,622
essv25938426	duplication	DGMQ-31029	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,562
essv25945377	duplication	DGMQ-31030	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,644
essv25975855	duplication	DGMQ-31513	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,620

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
essv25901441	Remapped	Perfect	NC_000016.10:g.(70 949298_?)_(?_71057 848)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,298	71,057,848
essv25906621	Remapped	Perfect	NC_000016.10:g.(70 949298_?)_(?_71057 848)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,298	71,057,848
essv25940170	Remapped	Perfect	NC_000016.10:g.(70 949298_?)_(?_71057 848)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,298	71,057,848
essv25936621	Remapped	Perfect	NC_000016.10:g.(70 949348_?)_(?_71057 748)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,348	71,057,748
essv25991372	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
essv26031413	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
essv25943553	Remapped	Perfect	NC_000016.10:g.(70 949348_?)_(?_71057 898)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,348	71,057,898
essv25975441	Remapped	Perfect	NC_000016.10:g.(70 949398_?)_(?_71057 698)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,398	71,057,698
essv25904930	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
essv25958373	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
essv26015937	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
essv26029675	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
essv25953146	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
essv25965169	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
essv25966954	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
essv25986205	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
essv25993433	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
essv26000107	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
essv26003476	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
essv26005250	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
essv26007010	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
essv25970323	Remapped	Perfect	NC_000016.10:g.(70 949398_?)_(?_71057 898)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,398	71,057,898
essv25959267	Remapped	Perfect	NC_000016.10:g.(70 949448_?)_(?_71057 698)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,448	71,057,698
essv26022845	Remapped	Perfect	NC_000016.10:g.(70 949448_?)_(?_71057 698)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,448	71,057,698
essv26033193	Remapped	Perfect	NC_000016.10:g.(70 949448_?)_(?_71057 698)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	70,949,448	71,057,698
essv25903237	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
essv25926216	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
essv25944227	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
essv25989664	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
essv25896274	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
essv25973758	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
essv26012221	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
essv26019405	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
essv26021153	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
essv26034925	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
essv26040247	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
essv25938426	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
essv25945377	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
essv25975855	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
essv25901441	Submitted genomic		NC_000016.9:g.(709 83201_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,201	71,091,751
essv25906621	Submitted genomic		NC_000016.9:g.(709 83201_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,201	71,091,751
essv25940170	Submitted genomic		NC_000016.9:g.(709 83201_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,201	71,091,751
essv25936621	Submitted genomic		NC_000016.9:g.(709 83251_?)_(?_710916 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,251	71,091,651
essv25991372	Submitted genomic		NC_000016.9:g.(709 83251_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,251	71,091,751
essv26031413	Submitted genomic		NC_000016.9:g.(709 83251_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,251	71,091,751
essv25943553	Submitted genomic		NC_000016.9:g.(709 83251_?)_(?_710918 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,251	71,091,801
essv25975441	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710916 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,601
essv25904930	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710916 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,651
essv25958373	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710916 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,651
essv26015937	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710917 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,701
essv26029675	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710917 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,701
essv25953146	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,751
essv25965169	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,751
essv25966954	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,751
essv25986205	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,751
essv25993433	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,751
essv26000107	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,751
essv26003476	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,751
essv26005250	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,751
essv26007010	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,751
essv25970323	Submitted genomic		NC_000016.9:g.(709 83301_?)_(?_710918 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,301	71,091,801
essv25959267	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710916 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,601
essv26022845	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710916 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,601
essv26033193	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710916 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,601
essv25903237	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,701
essv25926216	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,701
essv25944227	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,701
essv25989664	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,701
essv25896274	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,751
essv25973758	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,751
essv26012221	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,751
essv26019405	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,751
essv26021153	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,751
essv26034925	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,751
essv26040247	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710917 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,751
essv25938426	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710918 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,801
essv25945377	Submitted genomic		NC_000016.9:g.(709 83351_?)_(?_710918 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	70,983,351	71,091,801
essv25975855	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

esv3978845

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