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dbVar

Database of genomic structural variation

esv3887240

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:3
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: 149 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):26,773,181-26,773,181

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3887240	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	26,773,181	26,773,181
esv3887240	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	27,169,144	27,169,144

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25057195	sva insertion	HG01125	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,606
essv25057196	sva insertion	HG01131	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,486
essv25057197	sva insertion	NA19719	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,331

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25057195	Remapped	Perfect	NC_000022.11:g.267 73181_26773182ins6 30	GRCh38.p12	First Pass	NC_000022.11	Chr22	26,773,181	26,773,181
essv25057196	Remapped	Perfect	NC_000022.11:g.267 73181_26773182ins6 30	GRCh38.p12	First Pass	NC_000022.11	Chr22	26,773,181	26,773,181
essv25057197	Remapped	Perfect	NC_000022.11:g.267 73181_26773182ins6 30	GRCh38.p12	First Pass	NC_000022.11	Chr22	26,773,181	26,773,181
essv25057195	Submitted genomic		NC_000022.10:g.271 69144_27169145ins6 30	GRCh37 (hg19)		NC_000022.10	Chr22	27,169,144	27,169,144
essv25057196	Submitted genomic		NC_000022.10:g.271 69144_27169145ins6 30	GRCh37 (hg19)		NC_000022.10	Chr22	27,169,144	27,169,144
essv25057197	Submitted genomic		NC_000022.10:g.271 69144_27169145ins6 30	GRCh37 (hg19)		NC_000022.10	Chr22	27,169,144	27,169,144

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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