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dbVar

Database of genomic structural variation

esv3861940

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:1
Validation:Not tested
Clinical Assertions: No
Region Size:78,757

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: 417 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):107,862,549-107,941,311

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3861940	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	107,862,552 (-3, +3)	107,941,308 (-3, +3)
esv3861940	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	109,622,310 (-3, +3)	109,701,066 (-3, +3)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv22140323	deletion	HG00620	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,139

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv22140323	Remapped	Perfect	NC_000010.11:g.(10 7862549_107862555) _(107941305_107941 311)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	107,862,552 (-3, +3)	107,941,308 (-3, +3)
essv22140323	Submitted genomic		NC_000010.10:g.(10 9622307_109622313) _(109701063_109701 069)del	GRCh37 (hg19)		NC_000010.10	Chr10	109,622,310 (-3, +3)	109,701,066 (-3, +3)

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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