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dbVar

Database of genomic structural variation

esv3874732

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:5
Validation:Not tested
Clinical Assertions: No
Region Size:53,323

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: 516 SVs from 75 studies. See in: genome view

Remapped(Score: Perfect):34,637,565-34,690,888

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3874732	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	34,637,565 (-0, +1)	34,690,887 (-0, +1)
esv3874732	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	34,929,766 (-0, +1)	34,983,088 (-0, +1)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv23704186	deletion	HG00128	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,155
essv23704187	deletion	HG00138	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,435
essv23704188	deletion	HG00145	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,533
essv23704189	deletion	HG00154	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,446
essv23704190	deletion	NA11920	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,312

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv23704186	Remapped	Perfect	NC_000015.10:g.(34 637565_34637566)_( 34690887_34690888) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	34,637,565 (-0, +1)	34,690,887 (-0, +1)
essv23704187	Remapped	Perfect	NC_000015.10:g.(34 637565_34637566)_( 34690887_34690888) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	34,637,565 (-0, +1)	34,690,887 (-0, +1)
essv23704188	Remapped	Perfect	NC_000015.10:g.(34 637565_34637566)_( 34690887_34690888) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	34,637,565 (-0, +1)	34,690,887 (-0, +1)
essv23704189	Remapped	Perfect	NC_000015.10:g.(34 637565_34637566)_( 34690887_34690888) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	34,637,565 (-0, +1)	34,690,887 (-0, +1)
essv23704190	Remapped	Perfect	NC_000015.10:g.(34 637565_34637566)_( 34690887_34690888) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	34,637,565 (-0, +1)	34,690,887 (-0, +1)
essv23704186	Submitted genomic		NC_000015.9:g.(349 29766_34929767)_(3 4983088_34983089)d el	GRCh37 (hg19)		NC_000015.9	Chr15	34,929,766 (-0, +1)	34,983,088 (-0, +1)
essv23704187	Submitted genomic		NC_000015.9:g.(349 29766_34929767)_(3 4983088_34983089)d el	GRCh37 (hg19)		NC_000015.9	Chr15	34,929,766 (-0, +1)	34,983,088 (-0, +1)
essv23704188	Submitted genomic		NC_000015.9:g.(349 29766_34929767)_(3 4983088_34983089)d el	GRCh37 (hg19)		NC_000015.9	Chr15	34,929,766 (-0, +1)	34,983,088 (-0, +1)
essv23704189	Submitted genomic		NC_000015.9:g.(349 29766_34929767)_(3 4983088_34983089)d el	GRCh37 (hg19)		NC_000015.9	Chr15	34,929,766 (-0, +1)	34,983,088 (-0, +1)
essv23704190	Submitted genomic		NC_000015.9:g.(349 29766_34929767)_(3 4983088_34983089)d el	GRCh37 (hg19)		NC_000015.9	Chr15	34,929,766 (-0, +1)	34,983,088 (-0, +1)

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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