esv3885342

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:12,440

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: 194 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):36,414,120-36,428,559

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3885342	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	36,415,120 (-1000, +500)	36,427,559 (-500, +1000)
esv3885342	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	35,043,523 (-1000, +500)	35,055,962 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24824084	deletion	HG00421	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,639
essv24824085	deletion	HG00607	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,540
essv24824086	deletion	HG00632	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,420
essv24824087	deletion	HG00766	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,399
essv24824088	deletion	HG01816	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,536
essv24824089	deletion	HG01846	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,598
essv24824090	deletion	HG02029	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,514
essv24824091	deletion	HG02058	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,182
essv24824092	deletion	HG02070	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,304
essv24824093	deletion	HG02086	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,147
essv24824094	deletion	HG02133	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,146
essv24824095	deletion	HG02155	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,394
essv24824096	deletion	HG02186	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,373
essv24824097	deletion	HG02188	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,242
essv24824098	deletion	HG02250	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,687
essv24824099	deletion	HG02371	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,735
essv24824100	deletion	HG02394	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,636
essv24824101	deletion	NA18591	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,749

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24824084	Remapped	Perfect	NC_000020.11:g.(36 414120_36415620)_( 36427059_36428559) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	36,415,120 (-1000, +500)	36,427,559 (-500, +1000)
essv24824085	Remapped	Perfect	NC_000020.11:g.(36 414120_36415620)_( 36427059_36428559) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	36,415,120 (-1000, +500)	36,427,559 (-500, +1000)
essv24824086	Remapped	Perfect	NC_000020.11:g.(36 414120_36415620)_( 36427059_36428559) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	36,415,120 (-1000, +500)	36,427,559 (-500, +1000)
essv24824087	Remapped	Perfect	NC_000020.11:g.(36 414120_36415620)_( 36427059_36428559) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	36,415,120 (-1000, +500)	36,427,559 (-500, +1000)
essv24824088	Remapped	Perfect	NC_000020.11:g.(36 414120_36415620)_( 36427059_36428559) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	36,415,120 (-1000, +500)	36,427,559 (-500, +1000)
essv24824089	Remapped	Perfect	NC_000020.11:g.(36 414120_36415620)_( 36427059_36428559) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	36,415,120 (-1000, +500)	36,427,559 (-500, +1000)
essv24824090	Remapped	Perfect	NC_000020.11:g.(36 414120_36415620)_( 36427059_36428559) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	36,415,120 (-1000, +500)	36,427,559 (-500, +1000)
essv24824091	Remapped	Perfect	NC_000020.11:g.(36 414120_36415620)_( 36427059_36428559) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	36,415,120 (-1000, +500)	36,427,559 (-500, +1000)
essv24824092	Remapped	Perfect	NC_000020.11:g.(36 414120_36415620)_( 36427059_36428559) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	36,415,120 (-1000, +500)	36,427,559 (-500, +1000)
essv24824093	Remapped	Perfect	NC_000020.11:g.(36 414120_36415620)_( 36427059_36428559) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	36,415,120 (-1000, +500)	36,427,559 (-500, +1000)
essv24824094	Remapped	Perfect	NC_000020.11:g.(36 414120_36415620)_( 36427059_36428559) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	36,415,120 (-1000, +500)	36,427,559 (-500, +1000)
essv24824095	Remapped	Perfect	NC_000020.11:g.(36 414120_36415620)_( 36427059_36428559) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	36,415,120 (-1000, +500)	36,427,559 (-500, +1000)
essv24824096	Remapped	Perfect	NC_000020.11:g.(36 414120_36415620)_( 36427059_36428559) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	36,415,120 (-1000, +500)	36,427,559 (-500, +1000)
essv24824097	Remapped	Perfect	NC_000020.11:g.(36 414120_36415620)_( 36427059_36428559) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	36,415,120 (-1000, +500)	36,427,559 (-500, +1000)
essv24824098	Remapped	Perfect	NC_000020.11:g.(36 414120_36415620)_( 36427059_36428559) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	36,415,120 (-1000, +500)	36,427,559 (-500, +1000)
essv24824099	Remapped	Perfect	NC_000020.11:g.(36 414120_36415620)_( 36427059_36428559) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	36,415,120 (-1000, +500)	36,427,559 (-500, +1000)
essv24824100	Remapped	Perfect	NC_000020.11:g.(36 414120_36415620)_( 36427059_36428559) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	36,415,120 (-1000, +500)	36,427,559 (-500, +1000)
essv24824101	Remapped	Perfect	NC_000020.11:g.(36 414120_36415620)_( 36427059_36428559) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	36,415,120 (-1000, +500)	36,427,559 (-500, +1000)
essv24824084	Submitted genomic		NC_000020.10:g.(35 042523_35044023)_( 35055462_35056962) del	GRCh37 (hg19)		NC_000020.10	Chr20	35,043,523 (-1000, +500)	35,055,962 (-500, +1000)
essv24824085	Submitted genomic		NC_000020.10:g.(35 042523_35044023)_( 35055462_35056962) del	GRCh37 (hg19)		NC_000020.10	Chr20	35,043,523 (-1000, +500)	35,055,962 (-500, +1000)
essv24824086	Submitted genomic		NC_000020.10:g.(35 042523_35044023)_( 35055462_35056962) del	GRCh37 (hg19)		NC_000020.10	Chr20	35,043,523 (-1000, +500)	35,055,962 (-500, +1000)
essv24824087	Submitted genomic		NC_000020.10:g.(35 042523_35044023)_( 35055462_35056962) del	GRCh37 (hg19)		NC_000020.10	Chr20	35,043,523 (-1000, +500)	35,055,962 (-500, +1000)
essv24824088	Submitted genomic		NC_000020.10:g.(35 042523_35044023)_( 35055462_35056962) del	GRCh37 (hg19)		NC_000020.10	Chr20	35,043,523 (-1000, +500)	35,055,962 (-500, +1000)
essv24824089	Submitted genomic		NC_000020.10:g.(35 042523_35044023)_( 35055462_35056962) del	GRCh37 (hg19)		NC_000020.10	Chr20	35,043,523 (-1000, +500)	35,055,962 (-500, +1000)
essv24824090	Submitted genomic		NC_000020.10:g.(35 042523_35044023)_( 35055462_35056962) del	GRCh37 (hg19)		NC_000020.10	Chr20	35,043,523 (-1000, +500)	35,055,962 (-500, +1000)
essv24824091	Submitted genomic		NC_000020.10:g.(35 042523_35044023)_( 35055462_35056962) del	GRCh37 (hg19)		NC_000020.10	Chr20	35,043,523 (-1000, +500)	35,055,962 (-500, +1000)
essv24824092	Submitted genomic		NC_000020.10:g.(35 042523_35044023)_( 35055462_35056962) del	GRCh37 (hg19)		NC_000020.10	Chr20	35,043,523 (-1000, +500)	35,055,962 (-500, +1000)
essv24824093	Submitted genomic		NC_000020.10:g.(35 042523_35044023)_( 35055462_35056962) del	GRCh37 (hg19)		NC_000020.10	Chr20	35,043,523 (-1000, +500)	35,055,962 (-500, +1000)
essv24824094	Submitted genomic		NC_000020.10:g.(35 042523_35044023)_( 35055462_35056962) del	GRCh37 (hg19)		NC_000020.10	Chr20	35,043,523 (-1000, +500)	35,055,962 (-500, +1000)
essv24824095	Submitted genomic		NC_000020.10:g.(35 042523_35044023)_( 35055462_35056962) del	GRCh37 (hg19)		NC_000020.10	Chr20	35,043,523 (-1000, +500)	35,055,962 (-500, +1000)
essv24824096	Submitted genomic		NC_000020.10:g.(35 042523_35044023)_( 35055462_35056962) del	GRCh37 (hg19)		NC_000020.10	Chr20	35,043,523 (-1000, +500)	35,055,962 (-500, +1000)
essv24824097	Submitted genomic		NC_000020.10:g.(35 042523_35044023)_( 35055462_35056962) del	GRCh37 (hg19)		NC_000020.10	Chr20	35,043,523 (-1000, +500)	35,055,962 (-500, +1000)
essv24824098	Submitted genomic		NC_000020.10:g.(35 042523_35044023)_( 35055462_35056962) del	GRCh37 (hg19)		NC_000020.10	Chr20	35,043,523 (-1000, +500)	35,055,962 (-500, +1000)
essv24824099	Submitted genomic		NC_000020.10:g.(35 042523_35044023)_( 35055462_35056962) del	GRCh37 (hg19)		NC_000020.10	Chr20	35,043,523 (-1000, +500)	35,055,962 (-500, +1000)
essv24824100	Submitted genomic		NC_000020.10:g.(35 042523_35044023)_( 35055462_35056962) del	GRCh37 (hg19)		NC_000020.10	Chr20	35,043,523 (-1000, +500)	35,055,962 (-500, +1000)
essv24824101	Submitted genomic		NC_000020.10:g.(35 042523_35044023)_( 35055462_35056962) del	GRCh37 (hg19)		NC_000020.10	Chr20	35,043,523 (-1000, +500)	35,055,962 (-500, +1000)

dbVar

Database of genomic structural variation

esv3885342

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.