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dbVar

Database of genomic structural variation

esv3876054

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:3
Validation:Not tested
Clinical Assertions: No
Region Size:93,760

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: 498 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):93,606,749-93,700,511

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3876054	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	93,606,750 (-1, +2)	93,700,509 (-1, +2)
esv3876054	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	94,149,979 (-1, +2)	94,243,738 (-1, +2)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv23844736	deletion	HG01182	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,609
essv23844737	deletion	NA19773	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,730
essv23844738	deletion	NA20804	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,372

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv23844736	Remapped	Perfect	NC_000015.10:g.(93 606749_93606752)_( 93700508_93700511) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	93,606,750 (-1, +2)	93,700,509 (-1, +2)
essv23844737	Remapped	Perfect	NC_000015.10:g.(93 606749_93606752)_( 93700508_93700511) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	93,606,750 (-1, +2)	93,700,509 (-1, +2)
essv23844738	Remapped	Perfect	NC_000015.10:g.(93 606749_93606752)_( 93700508_93700511) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	93,606,750 (-1, +2)	93,700,509 (-1, +2)
essv23844736	Submitted genomic		NC_000015.9:g.(941 49978_94149981)_(9 4243737_94243740)d el	GRCh37 (hg19)		NC_000015.9	Chr15	94,149,979 (-1, +2)	94,243,738 (-1, +2)
essv23844737	Submitted genomic		NC_000015.9:g.(941 49978_94149981)_(9 4243737_94243740)d el	GRCh37 (hg19)		NC_000015.9	Chr15	94,149,979 (-1, +2)	94,243,738 (-1, +2)
essv23844738	Submitted genomic		NC_000015.9:g.(941 49978_94149981)_(9 4243737_94243740)d el	GRCh37 (hg19)		NC_000015.9	Chr15	94,149,979 (-1, +2)	94,243,738 (-1, +2)

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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