esv3860999

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:17
Validation:Not tested
Clinical Assertions: No
Region Size:11,029

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: 871 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):66,587,500-66,598,540

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3860999	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	66,587,506 (-6, +6)	66,598,534 (-6, +6)
esv3860999	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	68,347,264 (-6, +6)	68,358,292 (-6, +6)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv22027754	deletion	HG00531	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,960
essv22027755	deletion	HG00557	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,388
essv22027756	deletion	HG01325	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,518
essv22027757	deletion	HG01811	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,633
essv22027758	deletion	HG01865	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,541
essv22027759	deletion	HG02304	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,688
essv22027760	deletion	HG02374	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,698
essv22027761	deletion	HG02699	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,632
essv22027762	deletion	HG03100	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,044
essv22027763	deletion	HG03169	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,796
essv22027764	deletion	HG03514	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,779
essv22027765	deletion	HG04025	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,135
essv22027766	deletion	NA18616	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,280
essv22027767	deletion	NA18973	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,356
essv22027768	deletion	NA19117	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,833
essv22027769	deletion	NA20800	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,274
essv22027770	deletion	NA20896	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,397

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv22027754	Remapped	Perfect	NC_000010.11:g.(66 587500_66587512)_( 66598528_66598540) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,587,506 (-6, +6)	66,598,534 (-6, +6)
essv22027755	Remapped	Perfect	NC_000010.11:g.(66 587500_66587512)_( 66598528_66598540) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,587,506 (-6, +6)	66,598,534 (-6, +6)
essv22027756	Remapped	Perfect	NC_000010.11:g.(66 587500_66587512)_( 66598528_66598540) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,587,506 (-6, +6)	66,598,534 (-6, +6)
essv22027757	Remapped	Perfect	NC_000010.11:g.(66 587500_66587512)_( 66598528_66598540) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,587,506 (-6, +6)	66,598,534 (-6, +6)
essv22027758	Remapped	Perfect	NC_000010.11:g.(66 587500_66587512)_( 66598528_66598540) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,587,506 (-6, +6)	66,598,534 (-6, +6)
essv22027759	Remapped	Perfect	NC_000010.11:g.(66 587500_66587512)_( 66598528_66598540) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,587,506 (-6, +6)	66,598,534 (-6, +6)
essv22027760	Remapped	Perfect	NC_000010.11:g.(66 587500_66587512)_( 66598528_66598540) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,587,506 (-6, +6)	66,598,534 (-6, +6)
essv22027761	Remapped	Perfect	NC_000010.11:g.(66 587500_66587512)_( 66598528_66598540) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,587,506 (-6, +6)	66,598,534 (-6, +6)
essv22027762	Remapped	Perfect	NC_000010.11:g.(66 587500_66587512)_( 66598528_66598540) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,587,506 (-6, +6)	66,598,534 (-6, +6)
essv22027763	Remapped	Perfect	NC_000010.11:g.(66 587500_66587512)_( 66598528_66598540) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,587,506 (-6, +6)	66,598,534 (-6, +6)
essv22027764	Remapped	Perfect	NC_000010.11:g.(66 587500_66587512)_( 66598528_66598540) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,587,506 (-6, +6)	66,598,534 (-6, +6)
essv22027765	Remapped	Perfect	NC_000010.11:g.(66 587500_66587512)_( 66598528_66598540) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,587,506 (-6, +6)	66,598,534 (-6, +6)
essv22027766	Remapped	Perfect	NC_000010.11:g.(66 587500_66587512)_( 66598528_66598540) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,587,506 (-6, +6)	66,598,534 (-6, +6)
essv22027767	Remapped	Perfect	NC_000010.11:g.(66 587500_66587512)_( 66598528_66598540) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,587,506 (-6, +6)	66,598,534 (-6, +6)
essv22027768	Remapped	Perfect	NC_000010.11:g.(66 587500_66587512)_( 66598528_66598540) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,587,506 (-6, +6)	66,598,534 (-6, +6)
essv22027769	Remapped	Perfect	NC_000010.11:g.(66 587500_66587512)_( 66598528_66598540) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,587,506 (-6, +6)	66,598,534 (-6, +6)
essv22027770	Remapped	Perfect	NC_000010.11:g.(66 587500_66587512)_( 66598528_66598540) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,587,506 (-6, +6)	66,598,534 (-6, +6)
essv22027754	Submitted genomic		NC_000010.10:g.(68 347258_68347270)_( 68358286_68358298) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,347,264 (-6, +6)	68,358,292 (-6, +6)
essv22027755	Submitted genomic		NC_000010.10:g.(68 347258_68347270)_( 68358286_68358298) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,347,264 (-6, +6)	68,358,292 (-6, +6)
essv22027756	Submitted genomic		NC_000010.10:g.(68 347258_68347270)_( 68358286_68358298) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,347,264 (-6, +6)	68,358,292 (-6, +6)
essv22027757	Submitted genomic		NC_000010.10:g.(68 347258_68347270)_( 68358286_68358298) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,347,264 (-6, +6)	68,358,292 (-6, +6)
essv22027758	Submitted genomic		NC_000010.10:g.(68 347258_68347270)_( 68358286_68358298) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,347,264 (-6, +6)	68,358,292 (-6, +6)
essv22027759	Submitted genomic		NC_000010.10:g.(68 347258_68347270)_( 68358286_68358298) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,347,264 (-6, +6)	68,358,292 (-6, +6)
essv22027760	Submitted genomic		NC_000010.10:g.(68 347258_68347270)_( 68358286_68358298) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,347,264 (-6, +6)	68,358,292 (-6, +6)
essv22027761	Submitted genomic		NC_000010.10:g.(68 347258_68347270)_( 68358286_68358298) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,347,264 (-6, +6)	68,358,292 (-6, +6)
essv22027762	Submitted genomic		NC_000010.10:g.(68 347258_68347270)_( 68358286_68358298) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,347,264 (-6, +6)	68,358,292 (-6, +6)
essv22027763	Submitted genomic		NC_000010.10:g.(68 347258_68347270)_( 68358286_68358298) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,347,264 (-6, +6)	68,358,292 (-6, +6)
essv22027764	Submitted genomic		NC_000010.10:g.(68 347258_68347270)_( 68358286_68358298) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,347,264 (-6, +6)	68,358,292 (-6, +6)
essv22027765	Submitted genomic		NC_000010.10:g.(68 347258_68347270)_( 68358286_68358298) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,347,264 (-6, +6)	68,358,292 (-6, +6)
essv22027766	Submitted genomic		NC_000010.10:g.(68 347258_68347270)_( 68358286_68358298) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,347,264 (-6, +6)	68,358,292 (-6, +6)
essv22027767	Submitted genomic		NC_000010.10:g.(68 347258_68347270)_( 68358286_68358298) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,347,264 (-6, +6)	68,358,292 (-6, +6)
essv22027768	Submitted genomic		NC_000010.10:g.(68 347258_68347270)_( 68358286_68358298) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,347,264 (-6, +6)	68,358,292 (-6, +6)
essv22027769	Submitted genomic		NC_000010.10:g.(68 347258_68347270)_( 68358286_68358298) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,347,264 (-6, +6)	68,358,292 (-6, +6)
essv22027770	Submitted genomic		NC_000010.10:g.(68 347258_68347270)_( 68358286_68358298) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,347,264 (-6, +6)	68,358,292 (-6, +6)

dbVar

Database of genomic structural variation

esv3860999

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.