esv3977022

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:23
Validation:Not tested
Clinical Assertions: No
Region Size:11,701

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: 236 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):16,505,156-16,516,856

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
esv3977022	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	16,505,156	16,516,856
esv3977022	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	16,831,651	16,843,351

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
essv25925617	duplication	DGMQ-32044	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,484
essv25934566	duplication	DGMQ-31489	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,736
essv26027748	duplication	DGMQ-31641	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,638
essv25915004	duplication	DGMQ-31643	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,512
essv26012336	duplication	DGMQ-32285	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,598
essv25913246	duplication	DGMQ-32311	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,571
essv25922043	duplication	DGMQ-31244	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,657
essv25923874	duplication	DGMQ-31036	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,631
essv25996471	duplication	DGMQ-32059	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,514
essv25932722	duplication	DGMQ-32251	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,647
essv25947045	duplication	DGMQ-32309	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,760
essv25920085	duplication	DGMQ-31583	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,709
essv25918412	duplication	DGMQ-32291	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,453
essv25906650	duplication	DGMQ-31425	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,581
essv25930844	duplication	DGMQ-32220	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,685
essv25894151	duplication	DGMQ-31058	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,740
essv25927311	duplication	DGMQ-32160	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,682
essv25980650	duplication	DGMQ-32060	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,610
essv25929134	duplication	DGMQ-32371	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,493
essv25916742	duplication	DGMQ-31406	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,602
essv25906661	duplication	DGMQ-31425	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,581
essv25925618	duplication	DGMQ-32044	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,484
essv25934567	duplication	DGMQ-31489	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,736

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
essv25925617	Remapped	Perfect	NC_000001.11:g.(16 505156_?)_(?_16510 806)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,505,156	16,510,806
essv25934566	Remapped	Perfect	NC_000001.11:g.(16 505156_?)_(?_16510 806)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,505,156	16,510,806
essv26027748	Remapped	Perfect	NC_000001.11:g.(16 505156_?)_(?_16516 456)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,505,156	16,516,456
essv25915004	Remapped	Perfect	NC_000001.11:g.(16 505156_?)_(?_16516 556)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,505,156	16,516,556
essv26012336	Remapped	Perfect	NC_000001.11:g.(16 505806_?)_(?_16516 356)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,505,806	16,516,356
essv25913246	Remapped	Perfect	NC_000001.11:g.(16 505956_?)_(?_16516 356)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,505,956	16,516,356
essv25922043	Remapped	Perfect	NC_000001.11:g.(16 505956_?)_(?_16516 356)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,505,956	16,516,356
essv25923874	Remapped	Perfect	NC_000001.11:g.(16 505956_?)_(?_16516 356)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,505,956	16,516,356
essv25996471	Remapped	Perfect	NC_000001.11:g.(16 505956_?)_(?_16516 456)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,505,956	16,516,456
essv25932722	Remapped	Perfect	NC_000001.11:g.(16 505956_?)_(?_16516 856)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,505,956	16,516,856
essv25947045	Remapped	Perfect	NC_000001.11:g.(16 505956_?)_(?_16516 856)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,505,956	16,516,856
essv25920085	Remapped	Perfect	NC_000001.11:g.(16 506006_?)_(?_16515 506)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,506,006	16,515,506
essv25918412	Remapped	Perfect	NC_000001.11:g.(16 506006_?)_(?_16516 856)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,506,006	16,516,856
essv25906650	Remapped	Perfect	NC_000001.11:g.(16 506656_?)_(?_16510 806)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,506,656	16,510,806
essv25930844	Remapped	Perfect	NC_000001.11:g.(16 506656_?)_(?_16516 456)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,506,656	16,516,456
essv25894151	Remapped	Perfect	NC_000001.11:g.(16 506656_?)_(?_16516 606)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,506,656	16,516,606
essv25927311	Remapped	Perfect	NC_000001.11:g.(16 506706_?)_(?_16516 606)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,506,706	16,516,606
essv25980650	Remapped	Perfect	NC_000001.11:g.(16 506706_?)_(?_16516 606)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,506,706	16,516,606
essv25929134	Remapped	Perfect	NC_000001.11:g.(16 506706_?)_(?_16516 856)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,506,706	16,516,856
essv25916742	Remapped	Perfect	NC_000001.11:g.(16 506756_?)_(?_16516 406)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,506,756	16,516,406
essv25906661	Remapped	Perfect	NC_000001.11:g.(16 510856_?)_(?_16516 456)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,510,856	16,516,456
essv25925618	Remapped	Perfect	NC_000001.11:g.(16 510856_?)_(?_16516 456)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,510,856	16,516,456
essv25934567	Remapped	Perfect	NC_000001.11:g.(16 510856_?)_(?_16516 456)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,510,856	16,516,456
essv25925617	Submitted genomic		NC_000001.10:g.(16 831651_?)_(?_16837 301)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,831,651	16,837,301
essv25934566	Submitted genomic		NC_000001.10:g.(16 831651_?)_(?_16837 301)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,831,651	16,837,301
essv26027748	Submitted genomic		NC_000001.10:g.(16 831651_?)_(?_16842 951)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,831,651	16,842,951
essv25915004	Submitted genomic		NC_000001.10:g.(16 831651_?)_(?_16843 051)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,831,651	16,843,051
essv26012336	Submitted genomic		NC_000001.10:g.(16 832301_?)_(?_16842 851)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,832,301	16,842,851
essv25913246	Submitted genomic		NC_000001.10:g.(16 832451_?)_(?_16842 851)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,832,451	16,842,851
essv25922043	Submitted genomic		NC_000001.10:g.(16 832451_?)_(?_16842 851)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,832,451	16,842,851
essv25923874	Submitted genomic		NC_000001.10:g.(16 832451_?)_(?_16842 851)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,832,451	16,842,851
essv25996471	Submitted genomic		NC_000001.10:g.(16 832451_?)_(?_16842 951)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,832,451	16,842,951
essv25932722	Submitted genomic		NC_000001.10:g.(16 832451_?)_(?_16843 351)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,832,451	16,843,351
essv25947045	Submitted genomic		NC_000001.10:g.(16 832451_?)_(?_16843 351)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,832,451	16,843,351
essv25920085	Submitted genomic		NC_000001.10:g.(16 832501_?)_(?_16842 001)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,832,501	16,842,001
essv25918412	Submitted genomic		NC_000001.10:g.(16 832501_?)_(?_16843 351)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,832,501	16,843,351
essv25906650	Submitted genomic		NC_000001.10:g.(16 833151_?)_(?_16837 301)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,833,151	16,837,301
essv25930844	Submitted genomic		NC_000001.10:g.(16 833151_?)_(?_16842 951)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,833,151	16,842,951
essv25894151	Submitted genomic		NC_000001.10:g.(16 833151_?)_(?_16843 101)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,833,151	16,843,101
essv25927311	Submitted genomic		NC_000001.10:g.(16 833201_?)_(?_16843 101)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,833,201	16,843,101
essv25980650	Submitted genomic		NC_000001.10:g.(16 833201_?)_(?_16843 101)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,833,201	16,843,101
essv25929134	Submitted genomic		NC_000001.10:g.(16 833201_?)_(?_16843 351)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,833,201	16,843,351
essv25916742	Submitted genomic		NC_000001.10:g.(16 833251_?)_(?_16842 901)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,833,251	16,842,901
essv25906661	Submitted genomic		NC_000001.10:g.(16 837351_?)_(?_16842 951)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,837,351	16,842,951
essv25925618	Submitted genomic		NC_000001.10:g.(16 837351_?)_(?_16842 951)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,837,351	16,842,951
essv25934567	Submitted genomic		NC_000001.10:g.(16 837351_?)_(?_16842 951)dup	GRCh37 (hg19)		NC_000001.10	Chr1	16,837,351	16,842,951

dbVar

Database of genomic structural variation

esv3977022

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