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dbVar

Database of genomic structural variation

esv3832432

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:36,243

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: 299 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):145,908,481-145,944,733

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3832432	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	145,908,486 (-5, +5)	145,944,728 (-5, +5)
esv3832432	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	145,626,273 (-5, +5)	145,662,515 (-5, +5)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv18524124	deletion	HG02330	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,018
essv18524125	deletion	HG02953	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,984
essv18524126	deletion	HG03074	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,174
essv18524127	deletion	NA19190	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,058

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv18524124	Remapped	Perfect	NC_000003.12:g.(14 5908481_145908491) _(145944723_145944 733)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	145,908,486 (-5, +5)	145,944,728 (-5, +5)
essv18524125	Remapped	Perfect	NC_000003.12:g.(14 5908481_145908491) _(145944723_145944 733)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	145,908,486 (-5, +5)	145,944,728 (-5, +5)
essv18524126	Remapped	Perfect	NC_000003.12:g.(14 5908481_145908491) _(145944723_145944 733)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	145,908,486 (-5, +5)	145,944,728 (-5, +5)
essv18524127	Remapped	Perfect	NC_000003.12:g.(14 5908481_145908491) _(145944723_145944 733)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	145,908,486 (-5, +5)	145,944,728 (-5, +5)
essv18524124	Submitted genomic		NC_000003.11:g.(14 5626268_145626278) _(145662510_145662 520)del	GRCh37 (hg19)		NC_000003.11	Chr3	145,626,273 (-5, +5)	145,662,515 (-5, +5)
essv18524125	Submitted genomic		NC_000003.11:g.(14 5626268_145626278) _(145662510_145662 520)del	GRCh37 (hg19)		NC_000003.11	Chr3	145,626,273 (-5, +5)	145,662,515 (-5, +5)
essv18524126	Submitted genomic		NC_000003.11:g.(14 5626268_145626278) _(145662510_145662 520)del	GRCh37 (hg19)		NC_000003.11	Chr3	145,626,273 (-5, +5)	145,662,515 (-5, +5)
essv18524127	Submitted genomic		NC_000003.11:g.(14 5626268_145626278) _(145662510_145662 520)del	GRCh37 (hg19)		NC_000003.11	Chr3	145,626,273 (-5, +5)	145,662,515 (-5, +5)

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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