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dbVar

Database of genomic structural variation

esv3890098

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:1

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

Remapped(Score: Perfect):131,406,521-131,406,521

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3890098	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	131,406,521	131,406,521
esv3890098	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	130,540,495	130,540,495

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25623317	line1 insertion	HG03846	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,602
essv25623318	line1 insertion	HG03895	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,218

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25623317	Remapped	Perfect	NC_000023.11:g.131 406521_131406522in s324	GRCh38.p12	First Pass	NC_000023.11	ChrX	131,406,521	131,406,521
essv25623318	Remapped	Perfect	NC_000023.11:g.131 406521_131406522in s324	GRCh38.p12	First Pass	NC_000023.11	ChrX	131,406,521	131,406,521
essv25623317	Submitted genomic		NC_000023.10:g.130 540495_130540496in s324	GRCh37 (hg19)		NC_000023.10	ChrX	130,540,495	130,540,495
essv25623318	Submitted genomic		NC_000023.10:g.130 540495_130540496in s324	GRCh37 (hg19)		NC_000023.10	ChrX	130,540,495	130,540,495

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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