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dbVar

Database of genomic structural variation

esv3838676

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:7
Validation:Not tested
Clinical Assertions: No
Region Size:12,014

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: 660 SVs from 62 studies. See in: genome view

Remapped(Score: Perfect):188,005,300-188,019,313

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3838676	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	188,006,300 (-1000, +500)	188,018,313 (-500, +1000)
esv3838676	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	188,927,454 (-1000, +500)	188,939,467 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv19310859	deletion	HG01133	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,660
essv19310860	deletion	HG01464	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,831
essv19310861	deletion	HG01678	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,558
essv19310862	deletion	HG01762	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,189
essv19310863	deletion	HG01766	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,435
essv19310864	deletion	NA19780	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,243
essv19310865	deletion	NA20753	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,496

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv19310859	Remapped	Perfect	NC_000004.12:g.(18 8005300_188006800) _(188017813_188019 313)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	188,006,300 (-1000, +500)	188,018,313 (-500, +1000)
essv19310860	Remapped	Perfect	NC_000004.12:g.(18 8005300_188006800) _(188017813_188019 313)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	188,006,300 (-1000, +500)	188,018,313 (-500, +1000)
essv19310861	Remapped	Perfect	NC_000004.12:g.(18 8005300_188006800) _(188017813_188019 313)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	188,006,300 (-1000, +500)	188,018,313 (-500, +1000)
essv19310862	Remapped	Perfect	NC_000004.12:g.(18 8005300_188006800) _(188017813_188019 313)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	188,006,300 (-1000, +500)	188,018,313 (-500, +1000)
essv19310863	Remapped	Perfect	NC_000004.12:g.(18 8005300_188006800) _(188017813_188019 313)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	188,006,300 (-1000, +500)	188,018,313 (-500, +1000)
essv19310864	Remapped	Perfect	NC_000004.12:g.(18 8005300_188006800) _(188017813_188019 313)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	188,006,300 (-1000, +500)	188,018,313 (-500, +1000)
essv19310865	Remapped	Perfect	NC_000004.12:g.(18 8005300_188006800) _(188017813_188019 313)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	188,006,300 (-1000, +500)	188,018,313 (-500, +1000)
essv19310859	Submitted genomic		NC_000004.11:g.(18 8926454_188927954) _(188938967_188940 467)del	GRCh37 (hg19)		NC_000004.11	Chr4	188,927,454 (-1000, +500)	188,939,467 (-500, +1000)
essv19310860	Submitted genomic		NC_000004.11:g.(18 8926454_188927954) _(188938967_188940 467)del	GRCh37 (hg19)		NC_000004.11	Chr4	188,927,454 (-1000, +500)	188,939,467 (-500, +1000)
essv19310861	Submitted genomic		NC_000004.11:g.(18 8926454_188927954) _(188938967_188940 467)del	GRCh37 (hg19)		NC_000004.11	Chr4	188,927,454 (-1000, +500)	188,939,467 (-500, +1000)
essv19310862	Submitted genomic		NC_000004.11:g.(18 8926454_188927954) _(188938967_188940 467)del	GRCh37 (hg19)		NC_000004.11	Chr4	188,927,454 (-1000, +500)	188,939,467 (-500, +1000)
essv19310863	Submitted genomic		NC_000004.11:g.(18 8926454_188927954) _(188938967_188940 467)del	GRCh37 (hg19)		NC_000004.11	Chr4	188,927,454 (-1000, +500)	188,939,467 (-500, +1000)
essv19310864	Submitted genomic		NC_000004.11:g.(18 8926454_188927954) _(188938967_188940 467)del	GRCh37 (hg19)		NC_000004.11	Chr4	188,927,454 (-1000, +500)	188,939,467 (-500, +1000)
essv19310865	Submitted genomic		NC_000004.11:g.(18 8926454_188927954) _(188938967_188940 467)del	GRCh37 (hg19)		NC_000004.11	Chr4	188,927,454 (-1000, +500)	188,939,467 (-500, +1000)

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.

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