esv3825301

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:15
Validation:Not tested
Clinical Assertions: No
Region Size:30,393

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: 192 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):98,239,753-98,270,150

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3825301	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	98,239,755 (-2, +3)	98,270,147 (-2, +3)
esv3825301	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	98,856,218 (-2, +3)	98,886,610 (-2, +3)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv17769442	deletion	HG01886	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,702
essv17769443	deletion	HG02013	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,174
essv17769444	deletion	HG02450	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,332
essv17769445	deletion	HG02944	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,095
essv17769446	deletion	HG02973	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,061
essv17769447	deletion	HG03175	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,240
essv17769448	deletion	HG03265	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,297
essv17769449	deletion	HG03419	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,686
essv17769450	deletion	HG03460	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,875
essv17769451	deletion	NA18523	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,033
essv17769452	deletion	NA18856	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,348
essv17769453	deletion	NA19131	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,717
essv17769454	deletion	NA19153	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,426
essv17769455	deletion	NA19214	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,493
essv17769456	deletion	NA19236	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,068

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv17769442	Remapped	Perfect	NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	98,239,755 (-2, +3)	98,270,147 (-2, +3)
essv17769443	Remapped	Perfect	NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	98,239,755 (-2, +3)	98,270,147 (-2, +3)
essv17769444	Remapped	Perfect	NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	98,239,755 (-2, +3)	98,270,147 (-2, +3)
essv17769445	Remapped	Perfect	NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	98,239,755 (-2, +3)	98,270,147 (-2, +3)
essv17769446	Remapped	Perfect	NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	98,239,755 (-2, +3)	98,270,147 (-2, +3)
essv17769447	Remapped	Perfect	NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	98,239,755 (-2, +3)	98,270,147 (-2, +3)
essv17769448	Remapped	Perfect	NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	98,239,755 (-2, +3)	98,270,147 (-2, +3)
essv17769449	Remapped	Perfect	NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	98,239,755 (-2, +3)	98,270,147 (-2, +3)
essv17769450	Remapped	Perfect	NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	98,239,755 (-2, +3)	98,270,147 (-2, +3)
essv17769451	Remapped	Perfect	NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	98,239,755 (-2, +3)	98,270,147 (-2, +3)
essv17769452	Remapped	Perfect	NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	98,239,755 (-2, +3)	98,270,147 (-2, +3)
essv17769453	Remapped	Perfect	NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	98,239,755 (-2, +3)	98,270,147 (-2, +3)
essv17769454	Remapped	Perfect	NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	98,239,755 (-2, +3)	98,270,147 (-2, +3)
essv17769455	Remapped	Perfect	NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	98,239,755 (-2, +3)	98,270,147 (-2, +3)
essv17769456	Remapped	Perfect	NC_000002.12:g.(98 239753_98239758)_( 98270145_98270150) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	98,239,755 (-2, +3)	98,270,147 (-2, +3)
essv17769442	Submitted genomic		NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del	GRCh37 (hg19)		NC_000002.11	Chr2	98,856,218 (-2, +3)	98,886,610 (-2, +3)
essv17769443	Submitted genomic		NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del	GRCh37 (hg19)		NC_000002.11	Chr2	98,856,218 (-2, +3)	98,886,610 (-2, +3)
essv17769444	Submitted genomic		NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del	GRCh37 (hg19)		NC_000002.11	Chr2	98,856,218 (-2, +3)	98,886,610 (-2, +3)
essv17769445	Submitted genomic		NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del	GRCh37 (hg19)		NC_000002.11	Chr2	98,856,218 (-2, +3)	98,886,610 (-2, +3)
essv17769446	Submitted genomic		NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del	GRCh37 (hg19)		NC_000002.11	Chr2	98,856,218 (-2, +3)	98,886,610 (-2, +3)
essv17769447	Submitted genomic		NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del	GRCh37 (hg19)		NC_000002.11	Chr2	98,856,218 (-2, +3)	98,886,610 (-2, +3)
essv17769448	Submitted genomic		NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del	GRCh37 (hg19)		NC_000002.11	Chr2	98,856,218 (-2, +3)	98,886,610 (-2, +3)
essv17769449	Submitted genomic		NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del	GRCh37 (hg19)		NC_000002.11	Chr2	98,856,218 (-2, +3)	98,886,610 (-2, +3)
essv17769450	Submitted genomic		NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del	GRCh37 (hg19)		NC_000002.11	Chr2	98,856,218 (-2, +3)	98,886,610 (-2, +3)
essv17769451	Submitted genomic		NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del	GRCh37 (hg19)		NC_000002.11	Chr2	98,856,218 (-2, +3)	98,886,610 (-2, +3)
essv17769452	Submitted genomic		NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del	GRCh37 (hg19)		NC_000002.11	Chr2	98,856,218 (-2, +3)	98,886,610 (-2, +3)
essv17769453	Submitted genomic		NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del	GRCh37 (hg19)		NC_000002.11	Chr2	98,856,218 (-2, +3)	98,886,610 (-2, +3)
essv17769454	Submitted genomic		NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del	GRCh37 (hg19)		NC_000002.11	Chr2	98,856,218 (-2, +3)	98,886,610 (-2, +3)
essv17769455	Submitted genomic		NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del	GRCh37 (hg19)		NC_000002.11	Chr2	98,856,218 (-2, +3)	98,886,610 (-2, +3)
essv17769456	Submitted genomic		NC_000002.11:g.(98 856216_98856221)_( 98886608_98886613) del	GRCh37 (hg19)		NC_000002.11	Chr2	98,856,218 (-2, +3)	98,886,610 (-2, +3)

dbVar

Database of genomic structural variation

esv3825301

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.