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dbVar

Database of genomic structural variation

esv3873012

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:mobile element deletion
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:603

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: 92 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):52,065,453-52,066,055

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3873012	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	52,065,453	52,066,055
esv3873012	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	52,532,171	52,532,773

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv23485979	line1 deletion	HG01247	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,641
essv23485980	line1 deletion	NA19038	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,670
essv23485981	line1 deletion	NA19315	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,054
essv23485982	line1 deletion	NA19323	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,682
essv23485983	line1 deletion	NA19327	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,110
essv23485984	line1 deletion	NA19448	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,637

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv23485979	Remapped	Perfect	NC_000014.9:g.5206 5453_52066055del	GRCh38.p12	First Pass	NC_000014.9	Chr14	52,065,453	52,066,055
essv23485980	Remapped	Perfect	NC_000014.9:g.5206 5453_52066055del	GRCh38.p12	First Pass	NC_000014.9	Chr14	52,065,453	52,066,055
essv23485981	Remapped	Perfect	NC_000014.9:g.5206 5453_52066055del	GRCh38.p12	First Pass	NC_000014.9	Chr14	52,065,453	52,066,055
essv23485982	Remapped	Perfect	NC_000014.9:g.5206 5453_52066055del	GRCh38.p12	First Pass	NC_000014.9	Chr14	52,065,453	52,066,055
essv23485983	Remapped	Perfect	NC_000014.9:g.5206 5453_52066055del	GRCh38.p12	First Pass	NC_000014.9	Chr14	52,065,453	52,066,055
essv23485984	Remapped	Perfect	NC_000014.9:g.5206 5453_52066055del	GRCh38.p12	First Pass	NC_000014.9	Chr14	52,065,453	52,066,055
essv23485979	Submitted genomic		NC_000014.8:g.5253 2171_52532773del	GRCh37 (hg19)		NC_000014.8	Chr14	52,532,171	52,532,773
essv23485980	Submitted genomic		NC_000014.8:g.5253 2171_52532773del	GRCh37 (hg19)		NC_000014.8	Chr14	52,532,171	52,532,773
essv23485981	Submitted genomic		NC_000014.8:g.5253 2171_52532773del	GRCh37 (hg19)		NC_000014.8	Chr14	52,532,171	52,532,773
essv23485982	Submitted genomic		NC_000014.8:g.5253 2171_52532773del	GRCh37 (hg19)		NC_000014.8	Chr14	52,532,171	52,532,773
essv23485983	Submitted genomic		NC_000014.8:g.5253 2171_52532773del	GRCh37 (hg19)		NC_000014.8	Chr14	52,532,171	52,532,773
essv23485984	Submitted genomic		NC_000014.8:g.5253 2171_52532773del	GRCh37 (hg19)		NC_000014.8	Chr14	52,532,171	52,532,773

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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