esv3885611

Organism: Homo sapiens

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

Variant Calls:12
Validation:Not tested
Clinical Assertions: No
Region Size:1

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: 110 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):46,934,401-46,934,401

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3885611	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	46,934,401 (-0, +3)	46,934,401 (-3, +0)
esv3885611	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	45,563,040 (-0, +3)	45,563,040 (-3, +0)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24849193	insertion	HG00524	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,445
essv24849194	insertion	HG00581	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,201
essv24849195	insertion	HG00663	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,261
essv24849196	insertion	HG01800	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,324
essv24849197	insertion	HG01808	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,403
essv24849198	insertion	HG01812	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,403
essv24849199	insertion	HG01870	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,133
essv24849200	insertion	HG02064	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,488
essv24849201	insertion	HG02364	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,660
essv24849202	insertion	HG02402	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,676
essv24849203	insertion	HG04039	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,027
essv24849204	insertion	NA18630	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,902

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24849193	Remapped	Perfect	NC_000020.11:g.(46 934401_46934404)_( 46934398_46934401) ins205	GRCh38.p12	First Pass	NC_000020.11	Chr20	46,934,401 (-0, +3)	46,934,401 (-3, +0)
essv24849194	Remapped	Perfect	NC_000020.11:g.(46 934401_46934404)_( 46934398_46934401) ins205	GRCh38.p12	First Pass	NC_000020.11	Chr20	46,934,401 (-0, +3)	46,934,401 (-3, +0)
essv24849195	Remapped	Perfect	NC_000020.11:g.(46 934401_46934404)_( 46934398_46934401) ins205	GRCh38.p12	First Pass	NC_000020.11	Chr20	46,934,401 (-0, +3)	46,934,401 (-3, +0)
essv24849196	Remapped	Perfect	NC_000020.11:g.(46 934401_46934404)_( 46934398_46934401) ins205	GRCh38.p12	First Pass	NC_000020.11	Chr20	46,934,401 (-0, +3)	46,934,401 (-3, +0)
essv24849197	Remapped	Perfect	NC_000020.11:g.(46 934401_46934404)_( 46934398_46934401) ins205	GRCh38.p12	First Pass	NC_000020.11	Chr20	46,934,401 (-0, +3)	46,934,401 (-3, +0)
essv24849198	Remapped	Perfect	NC_000020.11:g.(46 934401_46934404)_( 46934398_46934401) ins205	GRCh38.p12	First Pass	NC_000020.11	Chr20	46,934,401 (-0, +3)	46,934,401 (-3, +0)
essv24849199	Remapped	Perfect	NC_000020.11:g.(46 934401_46934404)_( 46934398_46934401) ins205	GRCh38.p12	First Pass	NC_000020.11	Chr20	46,934,401 (-0, +3)	46,934,401 (-3, +0)
essv24849200	Remapped	Perfect	NC_000020.11:g.(46 934401_46934404)_( 46934398_46934401) ins205	GRCh38.p12	First Pass	NC_000020.11	Chr20	46,934,401 (-0, +3)	46,934,401 (-3, +0)
essv24849201	Remapped	Perfect	NC_000020.11:g.(46 934401_46934404)_( 46934398_46934401) ins205	GRCh38.p12	First Pass	NC_000020.11	Chr20	46,934,401 (-0, +3)	46,934,401 (-3, +0)
essv24849202	Remapped	Perfect	NC_000020.11:g.(46 934401_46934404)_( 46934398_46934401) ins205	GRCh38.p12	First Pass	NC_000020.11	Chr20	46,934,401 (-0, +3)	46,934,401 (-3, +0)
essv24849203	Remapped	Perfect	NC_000020.11:g.(46 934401_46934404)_( 46934398_46934401) ins205	GRCh38.p12	First Pass	NC_000020.11	Chr20	46,934,401 (-0, +3)	46,934,401 (-3, +0)
essv24849204	Remapped	Perfect	NC_000020.11:g.(46 934401_46934404)_( 46934398_46934401) ins205	GRCh38.p12	First Pass	NC_000020.11	Chr20	46,934,401 (-0, +3)	46,934,401 (-3, +0)
essv24849193	Submitted genomic		NC_000020.10:g.(45 563040_45563043)_( 45563037_45563040) ins205	GRCh37 (hg19)		NC_000020.10	Chr20	45,563,040 (-0, +3)	45,563,040 (-3, +0)
essv24849194	Submitted genomic		NC_000020.10:g.(45 563040_45563043)_( 45563037_45563040) ins205	GRCh37 (hg19)		NC_000020.10	Chr20	45,563,040 (-0, +3)	45,563,040 (-3, +0)
essv24849195	Submitted genomic		NC_000020.10:g.(45 563040_45563043)_( 45563037_45563040) ins205	GRCh37 (hg19)		NC_000020.10	Chr20	45,563,040 (-0, +3)	45,563,040 (-3, +0)
essv24849196	Submitted genomic		NC_000020.10:g.(45 563040_45563043)_( 45563037_45563040) ins205	GRCh37 (hg19)		NC_000020.10	Chr20	45,563,040 (-0, +3)	45,563,040 (-3, +0)
essv24849197	Submitted genomic		NC_000020.10:g.(45 563040_45563043)_( 45563037_45563040) ins205	GRCh37 (hg19)		NC_000020.10	Chr20	45,563,040 (-0, +3)	45,563,040 (-3, +0)
essv24849198	Submitted genomic		NC_000020.10:g.(45 563040_45563043)_( 45563037_45563040) ins205	GRCh37 (hg19)		NC_000020.10	Chr20	45,563,040 (-0, +3)	45,563,040 (-3, +0)
essv24849199	Submitted genomic		NC_000020.10:g.(45 563040_45563043)_( 45563037_45563040) ins205	GRCh37 (hg19)		NC_000020.10	Chr20	45,563,040 (-0, +3)	45,563,040 (-3, +0)
essv24849200	Submitted genomic		NC_000020.10:g.(45 563040_45563043)_( 45563037_45563040) ins205	GRCh37 (hg19)		NC_000020.10	Chr20	45,563,040 (-0, +3)	45,563,040 (-3, +0)
essv24849201	Submitted genomic		NC_000020.10:g.(45 563040_45563043)_( 45563037_45563040) ins205	GRCh37 (hg19)		NC_000020.10	Chr20	45,563,040 (-0, +3)	45,563,040 (-3, +0)
essv24849202	Submitted genomic		NC_000020.10:g.(45 563040_45563043)_( 45563037_45563040) ins205	GRCh37 (hg19)		NC_000020.10	Chr20	45,563,040 (-0, +3)	45,563,040 (-3, +0)
essv24849203	Submitted genomic		NC_000020.10:g.(45 563040_45563043)_( 45563037_45563040) ins205	GRCh37 (hg19)		NC_000020.10	Chr20	45,563,040 (-0, +3)	45,563,040 (-3, +0)
essv24849204	Submitted genomic		NC_000020.10:g.(45 563040_45563043)_( 45563037_45563040) ins205	GRCh37 (hg19)		NC_000020.10	Chr20	45,563,040 (-0, +3)	45,563,040 (-3, +0)

dbVar

Database of genomic structural variation

esv3885611

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.