esv3875416

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:10,165

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: 161 SVs from 37 studies. See in: genome view

Remapped(Score: Perfect):64,704,399-64,716,563

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3875416	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	64,705,399 (-1000, +500)	64,715,563 (-500, +1000)
esv3875416	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	64,997,598 (-1000, +500)	65,007,762 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv23787081	deletion	HG01140	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,523
essv23787082	deletion	HG01182	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,609
essv23787083	deletion	HG01880	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,797
essv23787084	deletion	HG03074	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,174
essv23787085	deletion	HG03079	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,021
essv23787086	deletion	HG03096	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,144
essv23787087	deletion	HG03166	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,203
essv23787088	deletion	HG03175	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,240
essv23787089	deletion	HG03280	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,000
essv23787090	deletion	HG03559	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,000
essv23787091	deletion	NA18519	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,117
essv23787092	deletion	NA18856	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,348
essv23787093	deletion	NA19159	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,279
essv23787094	deletion	NA19201	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,189
essv23787095	deletion	NA19225	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,045
essv23787096	deletion	NA19834	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,190
essv23787097	deletion	NA20287	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,056

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv23787081	Remapped	Perfect	NC_000015.10:g.(64 704399_64705899)_( 64715063_64716563) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	64,705,399 (-1000, +500)	64,715,563 (-500, +1000)
essv23787082	Remapped	Perfect	NC_000015.10:g.(64 704399_64705899)_( 64715063_64716563) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	64,705,399 (-1000, +500)	64,715,563 (-500, +1000)
essv23787083	Remapped	Perfect	NC_000015.10:g.(64 704399_64705899)_( 64715063_64716563) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	64,705,399 (-1000, +500)	64,715,563 (-500, +1000)
essv23787084	Remapped	Perfect	NC_000015.10:g.(64 704399_64705899)_( 64715063_64716563) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	64,705,399 (-1000, +500)	64,715,563 (-500, +1000)
essv23787085	Remapped	Perfect	NC_000015.10:g.(64 704399_64705899)_( 64715063_64716563) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	64,705,399 (-1000, +500)	64,715,563 (-500, +1000)
essv23787086	Remapped	Perfect	NC_000015.10:g.(64 704399_64705899)_( 64715063_64716563) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	64,705,399 (-1000, +500)	64,715,563 (-500, +1000)
essv23787087	Remapped	Perfect	NC_000015.10:g.(64 704399_64705899)_( 64715063_64716563) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	64,705,399 (-1000, +500)	64,715,563 (-500, +1000)
essv23787088	Remapped	Perfect	NC_000015.10:g.(64 704399_64705899)_( 64715063_64716563) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	64,705,399 (-1000, +500)	64,715,563 (-500, +1000)
essv23787089	Remapped	Perfect	NC_000015.10:g.(64 704399_64705899)_( 64715063_64716563) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	64,705,399 (-1000, +500)	64,715,563 (-500, +1000)
essv23787090	Remapped	Perfect	NC_000015.10:g.(64 704399_64705899)_( 64715063_64716563) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	64,705,399 (-1000, +500)	64,715,563 (-500, +1000)
essv23787091	Remapped	Perfect	NC_000015.10:g.(64 704399_64705899)_( 64715063_64716563) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	64,705,399 (-1000, +500)	64,715,563 (-500, +1000)
essv23787092	Remapped	Perfect	NC_000015.10:g.(64 704399_64705899)_( 64715063_64716563) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	64,705,399 (-1000, +500)	64,715,563 (-500, +1000)
essv23787093	Remapped	Perfect	NC_000015.10:g.(64 704399_64705899)_( 64715063_64716563) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	64,705,399 (-1000, +500)	64,715,563 (-500, +1000)
essv23787094	Remapped	Perfect	NC_000015.10:g.(64 704399_64705899)_( 64715063_64716563) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	64,705,399 (-1000, +500)	64,715,563 (-500, +1000)
essv23787095	Remapped	Perfect	NC_000015.10:g.(64 704399_64705899)_( 64715063_64716563) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	64,705,399 (-1000, +500)	64,715,563 (-500, +1000)
essv23787096	Remapped	Perfect	NC_000015.10:g.(64 704399_64705899)_( 64715063_64716563) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	64,705,399 (-1000, +500)	64,715,563 (-500, +1000)
essv23787097	Remapped	Perfect	NC_000015.10:g.(64 704399_64705899)_( 64715063_64716563) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	64,705,399 (-1000, +500)	64,715,563 (-500, +1000)
essv23787081	Submitted genomic		NC_000015.9:g.(649 96598_64998098)_(6 5007262_65008762)d el	GRCh37 (hg19)		NC_000015.9	Chr15	64,997,598 (-1000, +500)	65,007,762 (-500, +1000)
essv23787082	Submitted genomic		NC_000015.9:g.(649 96598_64998098)_(6 5007262_65008762)d el	GRCh37 (hg19)		NC_000015.9	Chr15	64,997,598 (-1000, +500)	65,007,762 (-500, +1000)
essv23787083	Submitted genomic		NC_000015.9:g.(649 96598_64998098)_(6 5007262_65008762)d el	GRCh37 (hg19)		NC_000015.9	Chr15	64,997,598 (-1000, +500)	65,007,762 (-500, +1000)
essv23787084	Submitted genomic		NC_000015.9:g.(649 96598_64998098)_(6 5007262_65008762)d el	GRCh37 (hg19)		NC_000015.9	Chr15	64,997,598 (-1000, +500)	65,007,762 (-500, +1000)
essv23787085	Submitted genomic		NC_000015.9:g.(649 96598_64998098)_(6 5007262_65008762)d el	GRCh37 (hg19)		NC_000015.9	Chr15	64,997,598 (-1000, +500)	65,007,762 (-500, +1000)
essv23787086	Submitted genomic		NC_000015.9:g.(649 96598_64998098)_(6 5007262_65008762)d el	GRCh37 (hg19)		NC_000015.9	Chr15	64,997,598 (-1000, +500)	65,007,762 (-500, +1000)
essv23787087	Submitted genomic		NC_000015.9:g.(649 96598_64998098)_(6 5007262_65008762)d el	GRCh37 (hg19)		NC_000015.9	Chr15	64,997,598 (-1000, +500)	65,007,762 (-500, +1000)
essv23787088	Submitted genomic		NC_000015.9:g.(649 96598_64998098)_(6 5007262_65008762)d el	GRCh37 (hg19)		NC_000015.9	Chr15	64,997,598 (-1000, +500)	65,007,762 (-500, +1000)
essv23787089	Submitted genomic		NC_000015.9:g.(649 96598_64998098)_(6 5007262_65008762)d el	GRCh37 (hg19)		NC_000015.9	Chr15	64,997,598 (-1000, +500)	65,007,762 (-500, +1000)
essv23787090	Submitted genomic		NC_000015.9:g.(649 96598_64998098)_(6 5007262_65008762)d el	GRCh37 (hg19)		NC_000015.9	Chr15	64,997,598 (-1000, +500)	65,007,762 (-500, +1000)
essv23787091	Submitted genomic		NC_000015.9:g.(649 96598_64998098)_(6 5007262_65008762)d el	GRCh37 (hg19)		NC_000015.9	Chr15	64,997,598 (-1000, +500)	65,007,762 (-500, +1000)
essv23787092	Submitted genomic		NC_000015.9:g.(649 96598_64998098)_(6 5007262_65008762)d el	GRCh37 (hg19)		NC_000015.9	Chr15	64,997,598 (-1000, +500)	65,007,762 (-500, +1000)
essv23787093	Submitted genomic		NC_000015.9:g.(649 96598_64998098)_(6 5007262_65008762)d el	GRCh37 (hg19)		NC_000015.9	Chr15	64,997,598 (-1000, +500)	65,007,762 (-500, +1000)
essv23787094	Submitted genomic		NC_000015.9:g.(649 96598_64998098)_(6 5007262_65008762)d el	GRCh37 (hg19)		NC_000015.9	Chr15	64,997,598 (-1000, +500)	65,007,762 (-500, +1000)
essv23787095	Submitted genomic		NC_000015.9:g.(649 96598_64998098)_(6 5007262_65008762)d el	GRCh37 (hg19)		NC_000015.9	Chr15	64,997,598 (-1000, +500)	65,007,762 (-500, +1000)
essv23787096	Submitted genomic		NC_000015.9:g.(649 96598_64998098)_(6 5007262_65008762)d el	GRCh37 (hg19)		NC_000015.9	Chr15	64,997,598 (-1000, +500)	65,007,762 (-500, +1000)
essv23787097	Submitted genomic		NC_000015.9:g.(649 96598_64998098)_(6 5007262_65008762)d el	GRCh37 (hg19)		NC_000015.9	Chr15	64,997,598 (-1000, +500)	65,007,762 (-500, +1000)

dbVar

Database of genomic structural variation

esv3875416

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.