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dbVar

Database of genomic structural variation

esv3598807

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:inversion
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:6,615

Publication(s):1000 Genomes Project Consortium et al. 2015

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: 126 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):177,922,540-177,929,798

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3598807	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	177,922,862 (-322, +322)	177,929,476 (-322, +322)
esv3598807	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	177,640,650 (-322, +322)	177,647,264 (-322, +322)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv11238189	inversion	SAMN01091047	Sequencing	Read depth and paired-end mapping	Heterozygous	2,580
essv11238190	inversion	SAMN01090787	Sequencing	Read depth and paired-end mapping	Heterozygous	3,193
essv11238191	inversion	SAMN01090834	Sequencing	Read depth and paired-end mapping	Heterozygous	2,887
essv11238192	inversion	SAMN00001691	Sequencing	Read depth and paired-end mapping	Heterozygous	2,479
essv11238193	inversion	SAMN00007826	Sequencing	Read depth and paired-end mapping	Heterozygous	2,586

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv11238189	Remapped	Perfect	NC_000003.12:g.(17 7922540_177923184) _(177929154_177929 798)inv	GRCh38.p12	First Pass	NC_000003.12	Chr3	177,922,862 (-322, +322)	177,929,476 (-322, +322)
essv11238190	Remapped	Perfect	NC_000003.12:g.(17 7922540_177923184) _(177929154_177929 798)inv	GRCh38.p12	First Pass	NC_000003.12	Chr3	177,922,862 (-322, +322)	177,929,476 (-322, +322)
essv11238191	Remapped	Perfect	NC_000003.12:g.(17 7922540_177923184) _(177929154_177929 798)inv	GRCh38.p12	First Pass	NC_000003.12	Chr3	177,922,862 (-322, +322)	177,929,476 (-322, +322)
essv11238192	Remapped	Perfect	NC_000003.12:g.(17 7922540_177923184) _(177929154_177929 798)inv	GRCh38.p12	First Pass	NC_000003.12	Chr3	177,922,862 (-322, +322)	177,929,476 (-322, +322)
essv11238193	Remapped	Perfect	NC_000003.12:g.(17 7922540_177923184) _(177929154_177929 798)inv	GRCh38.p12	First Pass	NC_000003.12	Chr3	177,922,862 (-322, +322)	177,929,476 (-322, +322)
essv11238189	Submitted genomic		NC_000003.11:g.(17 7640328_177640972) _(177646942_177647 586)inv	GRCh37 (hg19)		NC_000003.11	Chr3	177,640,650 (-322, +322)	177,647,264 (-322, +322)
essv11238190	Submitted genomic		NC_000003.11:g.(17 7640328_177640972) _(177646942_177647 586)inv	GRCh37 (hg19)		NC_000003.11	Chr3	177,640,650 (-322, +322)	177,647,264 (-322, +322)
essv11238191	Submitted genomic		NC_000003.11:g.(17 7640328_177640972) _(177646942_177647 586)inv	GRCh37 (hg19)		NC_000003.11	Chr3	177,640,650 (-322, +322)	177,647,264 (-322, +322)
essv11238192	Submitted genomic		NC_000003.11:g.(17 7640328_177640972) _(177646942_177647 586)inv	GRCh37 (hg19)		NC_000003.11	Chr3	177,640,650 (-322, +322)	177,647,264 (-322, +322)
essv11238193	Submitted genomic		NC_000003.11:g.(17 7640328_177640972) _(177646942_177647 586)inv	GRCh37 (hg19)		NC_000003.11	Chr3	177,640,650 (-322, +322)	177,647,264 (-322, +322)

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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