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dbVar

Database of genomic structural variation

esv3883665

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:2
Validation:Not tested
Clinical Assertions: No
Region Size:1,815

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: 119 SVs from 17 studies. See in: genome view

Remapped(Score: Perfect):34,906,843-34,908,972

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3883665	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	34,907,000 (-157, +0)	34,908,814 (-0, +158)
esv3883665	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	35,397,904 (-157, +0)	35,399,718 (-0, +158)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24649462	deletion	HG02571	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,903
essv24649463	deletion	HG03270	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,548

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24649462	Remapped	Perfect	NC_000019.10:g.(34 906843_34907000)_( 34908814_34908972) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	34,907,000 (-157, +0)	34,908,814 (-0, +158)
essv24649463	Remapped	Perfect	NC_000019.10:g.(34 906843_34907000)_( 34908814_34908972) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	34,907,000 (-157, +0)	34,908,814 (-0, +158)
essv24649462	Submitted genomic		NC_000019.9:g.(353 97747_35397904)_(3 5399718_35399876)d el	GRCh37 (hg19)		NC_000019.9	Chr19	35,397,904 (-157, +0)	35,399,718 (-0, +158)
essv24649463	Submitted genomic		NC_000019.9:g.(353 97747_35397904)_(3 5399718_35399876)d el	GRCh37 (hg19)		NC_000019.9	Chr19	35,397,904 (-157, +0)	35,399,718 (-0, +158)

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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