esv3829073

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:13
Validation:Not tested
Clinical Assertions: No
Region Size:13,972

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 720 SVs from 53 studies. See in: genome view

Remapped(Score: Perfect):4,075,153-4,090,124

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3829073	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	4,075,653 (-500, +0)	4,089,624 (-0, +500)
esv3829073	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	4,117,337 (-500, +0)	4,131,308 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv18172483	deletion	HG00254	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,343
essv18172484	deletion	HG01985	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,789
essv18172485	deletion	HG02256	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,624
essv18172486	deletion	HG02427	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,959
essv18172487	deletion	HG03199	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,836
essv18172488	deletion	HG03433	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,053
essv18172489	deletion	HG04054	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,819
essv18172490	deletion	NA18877	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,288
essv18172491	deletion	NA19019	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,959
essv18172492	deletion	NA19327	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,110
essv18172493	deletion	NA19385	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,057
essv18172494	deletion	NA20502	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,989
essv18172495	deletion	NA20903	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,711

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv18172483	Remapped	Perfect	NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,075,653 (-500, +0)	4,089,624 (-0, +500)
essv18172484	Remapped	Perfect	NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,075,653 (-500, +0)	4,089,624 (-0, +500)
essv18172485	Remapped	Perfect	NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,075,653 (-500, +0)	4,089,624 (-0, +500)
essv18172486	Remapped	Perfect	NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,075,653 (-500, +0)	4,089,624 (-0, +500)
essv18172487	Remapped	Perfect	NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,075,653 (-500, +0)	4,089,624 (-0, +500)
essv18172488	Remapped	Perfect	NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,075,653 (-500, +0)	4,089,624 (-0, +500)
essv18172489	Remapped	Perfect	NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,075,653 (-500, +0)	4,089,624 (-0, +500)
essv18172490	Remapped	Perfect	NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,075,653 (-500, +0)	4,089,624 (-0, +500)
essv18172491	Remapped	Perfect	NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,075,653 (-500, +0)	4,089,624 (-0, +500)
essv18172492	Remapped	Perfect	NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,075,653 (-500, +0)	4,089,624 (-0, +500)
essv18172493	Remapped	Perfect	NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,075,653 (-500, +0)	4,089,624 (-0, +500)
essv18172494	Remapped	Perfect	NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,075,653 (-500, +0)	4,089,624 (-0, +500)
essv18172495	Remapped	Perfect	NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	4,075,653 (-500, +0)	4,089,624 (-0, +500)
essv18172483	Submitted genomic		NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,117,337 (-500, +0)	4,131,308 (-0, +500)
essv18172484	Submitted genomic		NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,117,337 (-500, +0)	4,131,308 (-0, +500)
essv18172485	Submitted genomic		NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,117,337 (-500, +0)	4,131,308 (-0, +500)
essv18172486	Submitted genomic		NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,117,337 (-500, +0)	4,131,308 (-0, +500)
essv18172487	Submitted genomic		NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,117,337 (-500, +0)	4,131,308 (-0, +500)
essv18172488	Submitted genomic		NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,117,337 (-500, +0)	4,131,308 (-0, +500)
essv18172489	Submitted genomic		NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,117,337 (-500, +0)	4,131,308 (-0, +500)
essv18172490	Submitted genomic		NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,117,337 (-500, +0)	4,131,308 (-0, +500)
essv18172491	Submitted genomic		NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,117,337 (-500, +0)	4,131,308 (-0, +500)
essv18172492	Submitted genomic		NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,117,337 (-500, +0)	4,131,308 (-0, +500)
essv18172493	Submitted genomic		NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,117,337 (-500, +0)	4,131,308 (-0, +500)
essv18172494	Submitted genomic		NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,117,337 (-500, +0)	4,131,308 (-0, +500)
essv18172495	Submitted genomic		NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del	GRCh37 (hg19)		NC_000003.11	Chr3	4,117,337 (-500, +0)	4,131,308 (-0, +500)

dbVar

Database of genomic structural variation

esv3829073

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

Genotype and/or allele frequency data can be found on dbVar's FTP site.