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dbVar

Database of genomic structural variation

esv3890070

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:8
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: 404 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):130,369,606-130,369,606

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3890070	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	130,369,606	130,369,606
esv3890070	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	129,503,580	129,503,580

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25619420	line1 insertion	HG02309	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,730
essv25619421	line1 insertion	HG02537	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,175
essv25619422	line1 insertion	HG03129	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,795
essv25619423	line1 insertion	HG03190	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,090
essv25619424	line1 insertion	HG03198	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,788
essv25619425	line1 insertion	HG03380	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,578
essv25619426	line1 insertion	HG03470	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,775
essv25619427	line1 insertion	NA19312	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,772

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25619420	Remapped	Perfect	NC_000023.11:g.130 369606_130369607in s3816	GRCh38.p12	First Pass	NC_000023.11	ChrX	130,369,606	130,369,606
essv25619421	Remapped	Perfect	NC_000023.11:g.130 369606_130369607in s3816	GRCh38.p12	First Pass	NC_000023.11	ChrX	130,369,606	130,369,606
essv25619422	Remapped	Perfect	NC_000023.11:g.130 369606_130369607in s3816	GRCh38.p12	First Pass	NC_000023.11	ChrX	130,369,606	130,369,606
essv25619423	Remapped	Perfect	NC_000023.11:g.130 369606_130369607in s3816	GRCh38.p12	First Pass	NC_000023.11	ChrX	130,369,606	130,369,606
essv25619424	Remapped	Perfect	NC_000023.11:g.130 369606_130369607in s3816	GRCh38.p12	First Pass	NC_000023.11	ChrX	130,369,606	130,369,606
essv25619425	Remapped	Perfect	NC_000023.11:g.130 369606_130369607in s3816	GRCh38.p12	First Pass	NC_000023.11	ChrX	130,369,606	130,369,606
essv25619426	Remapped	Perfect	NC_000023.11:g.130 369606_130369607in s3816	GRCh38.p12	First Pass	NC_000023.11	ChrX	130,369,606	130,369,606
essv25619427	Remapped	Perfect	NC_000023.11:g.130 369606_130369607in s3816	GRCh38.p12	First Pass	NC_000023.11	ChrX	130,369,606	130,369,606
essv25619420	Submitted genomic		NC_000023.10:g.129 503580_129503581in s3816	GRCh37 (hg19)		NC_000023.10	ChrX	129,503,580	129,503,580
essv25619421	Submitted genomic		NC_000023.10:g.129 503580_129503581in s3816	GRCh37 (hg19)		NC_000023.10	ChrX	129,503,580	129,503,580
essv25619422	Submitted genomic		NC_000023.10:g.129 503580_129503581in s3816	GRCh37 (hg19)		NC_000023.10	ChrX	129,503,580	129,503,580
essv25619423	Submitted genomic		NC_000023.10:g.129 503580_129503581in s3816	GRCh37 (hg19)		NC_000023.10	ChrX	129,503,580	129,503,580
essv25619424	Submitted genomic		NC_000023.10:g.129 503580_129503581in s3816	GRCh37 (hg19)		NC_000023.10	ChrX	129,503,580	129,503,580
essv25619425	Submitted genomic		NC_000023.10:g.129 503580_129503581in s3816	GRCh37 (hg19)		NC_000023.10	ChrX	129,503,580	129,503,580
essv25619426	Submitted genomic		NC_000023.10:g.129 503580_129503581in s3816	GRCh37 (hg19)		NC_000023.10	ChrX	129,503,580	129,503,580
essv25619427	Submitted genomic		NC_000023.10:g.129 503580_129503581in s3816	GRCh37 (hg19)		NC_000023.10	ChrX	129,503,580	129,503,580

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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