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dbVar

Database of genomic structural variation

esv3853517

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:4
Validation:Not tested
Clinical Assertions: No
Region Size:11,046

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: 215 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):39,774,913-39,785,960

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3853517	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	39,774,914 (-1, +1)	39,785,959 (-1, +1)
esv3853517	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187577.1	Chr8\|NT_18 7577.1	525,549 (-1, +1)	536,593 (-1, +1)
esv3853517	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	39,632,433 (-1, +1)	39,643,478 (-1, +1)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv21130847	deletion	HG00472	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,651
essv21130848	deletion	HG00593	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,507
essv21130849	deletion	HG02081	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,216
essv21130850	deletion	NA18597	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,390

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv21130847	Remapped	Good	NT_187577.1:g.(525 548_525550)_(53659 2_536594)del	GRCh38.p12	Second Pass	NT_187577.1	Chr8\|NT_18 7577.1	525,549 (-1, +1)	536,593 (-1, +1)
essv21130848	Remapped	Good	NT_187577.1:g.(525 548_525550)_(53659 2_536594)del	GRCh38.p12	Second Pass	NT_187577.1	Chr8\|NT_18 7577.1	525,549 (-1, +1)	536,593 (-1, +1)
essv21130849	Remapped	Good	NT_187577.1:g.(525 548_525550)_(53659 2_536594)del	GRCh38.p12	Second Pass	NT_187577.1	Chr8\|NT_18 7577.1	525,549 (-1, +1)	536,593 (-1, +1)
essv21130850	Remapped	Good	NT_187577.1:g.(525 548_525550)_(53659 2_536594)del	GRCh38.p12	Second Pass	NT_187577.1	Chr8\|NT_18 7577.1	525,549 (-1, +1)	536,593 (-1, +1)
essv21130847	Remapped	Perfect	NC_000008.11:g.(39 774913_39774915)_( 39785958_39785960) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,774,914 (-1, +1)	39,785,959 (-1, +1)
essv21130848	Remapped	Perfect	NC_000008.11:g.(39 774913_39774915)_( 39785958_39785960) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,774,914 (-1, +1)	39,785,959 (-1, +1)
essv21130849	Remapped	Perfect	NC_000008.11:g.(39 774913_39774915)_( 39785958_39785960) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,774,914 (-1, +1)	39,785,959 (-1, +1)
essv21130850	Remapped	Perfect	NC_000008.11:g.(39 774913_39774915)_( 39785958_39785960) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,774,914 (-1, +1)	39,785,959 (-1, +1)
essv21130847	Submitted genomic		NC_000008.10:g.(39 632432_39632434)_( 39643477_39643479) del	GRCh37 (hg19)		NC_000008.10	Chr8	39,632,433 (-1, +1)	39,643,478 (-1, +1)
essv21130848	Submitted genomic		NC_000008.10:g.(39 632432_39632434)_( 39643477_39643479) del	GRCh37 (hg19)		NC_000008.10	Chr8	39,632,433 (-1, +1)	39,643,478 (-1, +1)
essv21130849	Submitted genomic		NC_000008.10:g.(39 632432_39632434)_( 39643477_39643479) del	GRCh37 (hg19)		NC_000008.10	Chr8	39,632,433 (-1, +1)	39,643,478 (-1, +1)
essv21130850	Submitted genomic		NC_000008.10:g.(39 632432_39632434)_( 39643477_39643479) del	GRCh37 (hg19)		NC_000008.10	Chr8	39,632,433 (-1, +1)	39,643,478 (-1, +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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