esv3835462

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:18
Validation:Not tested
Clinical Assertions: No
Region Size:21,481

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: 253 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):64,953,812-64,975,632

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3835462	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	64,953,982 (-170, +95)	64,975,462 (-50, +170)
esv3835462	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	65,819,700 (-170, +95)	65,841,180 (-50, +170)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv18891630	deletion	HG01205	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,395
essv18891631	deletion	HG02484	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,869
essv18891632	deletion	HG02545	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,951
essv18891633	deletion	HG02854	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,874
essv18891634	deletion	HG03069	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,750
essv18891635	deletion	HG03078	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,104
essv18891636	deletion	HG03082	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,942
essv18891637	deletion	HG03086	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,989
essv18891638	deletion	HG03380	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,578
essv18891639	deletion	HG03476	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,858
essv18891640	deletion	NA18501	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,193
essv18891641	deletion	NA19201	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,189
essv18891642	deletion	NA19378	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,801
essv18891643	deletion	NA19475	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,150
essv18891644	deletion	NA19835	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,009
essv18891645	deletion	NA19900	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,229
essv18891646	deletion	NA19916	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,009
essv18891647	deletion	NA20355	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,782

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv18891630	Remapped	Perfect	NC_000004.12:g.(64 953812_64954077)_( 64975412_64975632) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	64,953,982 (-170, +95)	64,975,462 (-50, +170)
essv18891631	Remapped	Perfect	NC_000004.12:g.(64 953812_64954077)_( 64975412_64975632) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	64,953,982 (-170, +95)	64,975,462 (-50, +170)
essv18891632	Remapped	Perfect	NC_000004.12:g.(64 953812_64954077)_( 64975412_64975632) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	64,953,982 (-170, +95)	64,975,462 (-50, +170)
essv18891633	Remapped	Perfect	NC_000004.12:g.(64 953812_64954077)_( 64975412_64975632) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	64,953,982 (-170, +95)	64,975,462 (-50, +170)
essv18891634	Remapped	Perfect	NC_000004.12:g.(64 953812_64954077)_( 64975412_64975632) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	64,953,982 (-170, +95)	64,975,462 (-50, +170)
essv18891635	Remapped	Perfect	NC_000004.12:g.(64 953812_64954077)_( 64975412_64975632) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	64,953,982 (-170, +95)	64,975,462 (-50, +170)
essv18891636	Remapped	Perfect	NC_000004.12:g.(64 953812_64954077)_( 64975412_64975632) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	64,953,982 (-170, +95)	64,975,462 (-50, +170)
essv18891637	Remapped	Perfect	NC_000004.12:g.(64 953812_64954077)_( 64975412_64975632) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	64,953,982 (-170, +95)	64,975,462 (-50, +170)
essv18891638	Remapped	Perfect	NC_000004.12:g.(64 953812_64954077)_( 64975412_64975632) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	64,953,982 (-170, +95)	64,975,462 (-50, +170)
essv18891639	Remapped	Perfect	NC_000004.12:g.(64 953812_64954077)_( 64975412_64975632) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	64,953,982 (-170, +95)	64,975,462 (-50, +170)
essv18891640	Remapped	Perfect	NC_000004.12:g.(64 953812_64954077)_( 64975412_64975632) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	64,953,982 (-170, +95)	64,975,462 (-50, +170)
essv18891641	Remapped	Perfect	NC_000004.12:g.(64 953812_64954077)_( 64975412_64975632) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	64,953,982 (-170, +95)	64,975,462 (-50, +170)
essv18891642	Remapped	Perfect	NC_000004.12:g.(64 953812_64954077)_( 64975412_64975632) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	64,953,982 (-170, +95)	64,975,462 (-50, +170)
essv18891643	Remapped	Perfect	NC_000004.12:g.(64 953812_64954077)_( 64975412_64975632) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	64,953,982 (-170, +95)	64,975,462 (-50, +170)
essv18891644	Remapped	Perfect	NC_000004.12:g.(64 953812_64954077)_( 64975412_64975632) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	64,953,982 (-170, +95)	64,975,462 (-50, +170)
essv18891645	Remapped	Perfect	NC_000004.12:g.(64 953812_64954077)_( 64975412_64975632) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	64,953,982 (-170, +95)	64,975,462 (-50, +170)
essv18891646	Remapped	Perfect	NC_000004.12:g.(64 953812_64954077)_( 64975412_64975632) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	64,953,982 (-170, +95)	64,975,462 (-50, +170)
essv18891647	Remapped	Perfect	NC_000004.12:g.(64 953812_64954077)_( 64975412_64975632) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	64,953,982 (-170, +95)	64,975,462 (-50, +170)
essv18891630	Submitted genomic		NC_000004.11:g.(65 819530_65819795)_( 65841130_65841350) del	GRCh37 (hg19)		NC_000004.11	Chr4	65,819,700 (-170, +95)	65,841,180 (-50, +170)
essv18891631	Submitted genomic		NC_000004.11:g.(65 819530_65819795)_( 65841130_65841350) del	GRCh37 (hg19)		NC_000004.11	Chr4	65,819,700 (-170, +95)	65,841,180 (-50, +170)
essv18891632	Submitted genomic		NC_000004.11:g.(65 819530_65819795)_( 65841130_65841350) del	GRCh37 (hg19)		NC_000004.11	Chr4	65,819,700 (-170, +95)	65,841,180 (-50, +170)
essv18891633	Submitted genomic		NC_000004.11:g.(65 819530_65819795)_( 65841130_65841350) del	GRCh37 (hg19)		NC_000004.11	Chr4	65,819,700 (-170, +95)	65,841,180 (-50, +170)
essv18891634	Submitted genomic		NC_000004.11:g.(65 819530_65819795)_( 65841130_65841350) del	GRCh37 (hg19)		NC_000004.11	Chr4	65,819,700 (-170, +95)	65,841,180 (-50, +170)
essv18891635	Submitted genomic		NC_000004.11:g.(65 819530_65819795)_( 65841130_65841350) del	GRCh37 (hg19)		NC_000004.11	Chr4	65,819,700 (-170, +95)	65,841,180 (-50, +170)
essv18891636	Submitted genomic		NC_000004.11:g.(65 819530_65819795)_( 65841130_65841350) del	GRCh37 (hg19)		NC_000004.11	Chr4	65,819,700 (-170, +95)	65,841,180 (-50, +170)
essv18891637	Submitted genomic		NC_000004.11:g.(65 819530_65819795)_( 65841130_65841350) del	GRCh37 (hg19)		NC_000004.11	Chr4	65,819,700 (-170, +95)	65,841,180 (-50, +170)
essv18891638	Submitted genomic		NC_000004.11:g.(65 819530_65819795)_( 65841130_65841350) del	GRCh37 (hg19)		NC_000004.11	Chr4	65,819,700 (-170, +95)	65,841,180 (-50, +170)
essv18891639	Submitted genomic		NC_000004.11:g.(65 819530_65819795)_( 65841130_65841350) del	GRCh37 (hg19)		NC_000004.11	Chr4	65,819,700 (-170, +95)	65,841,180 (-50, +170)
essv18891640	Submitted genomic		NC_000004.11:g.(65 819530_65819795)_( 65841130_65841350) del	GRCh37 (hg19)		NC_000004.11	Chr4	65,819,700 (-170, +95)	65,841,180 (-50, +170)
essv18891641	Submitted genomic		NC_000004.11:g.(65 819530_65819795)_( 65841130_65841350) del	GRCh37 (hg19)		NC_000004.11	Chr4	65,819,700 (-170, +95)	65,841,180 (-50, +170)
essv18891642	Submitted genomic		NC_000004.11:g.(65 819530_65819795)_( 65841130_65841350) del	GRCh37 (hg19)		NC_000004.11	Chr4	65,819,700 (-170, +95)	65,841,180 (-50, +170)
essv18891643	Submitted genomic		NC_000004.11:g.(65 819530_65819795)_( 65841130_65841350) del	GRCh37 (hg19)		NC_000004.11	Chr4	65,819,700 (-170, +95)	65,841,180 (-50, +170)
essv18891644	Submitted genomic		NC_000004.11:g.(65 819530_65819795)_( 65841130_65841350) del	GRCh37 (hg19)		NC_000004.11	Chr4	65,819,700 (-170, +95)	65,841,180 (-50, +170)
essv18891645	Submitted genomic		NC_000004.11:g.(65 819530_65819795)_( 65841130_65841350) del	GRCh37 (hg19)		NC_000004.11	Chr4	65,819,700 (-170, +95)	65,841,180 (-50, +170)
essv18891646	Submitted genomic		NC_000004.11:g.(65 819530_65819795)_( 65841130_65841350) del	GRCh37 (hg19)		NC_000004.11	Chr4	65,819,700 (-170, +95)	65,841,180 (-50, +170)
essv18891647	Submitted genomic		NC_000004.11:g.(65 819530_65819795)_( 65841130_65841350) del	GRCh37 (hg19)		NC_000004.11	Chr4	65,819,700 (-170, +95)	65,841,180 (-50, +170)

dbVar

Database of genomic structural variation

esv3835462

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.