Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv3647636

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:104,306

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: 403 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):33,998,640-34,103,229

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3647636	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	33,998,782 (-142, +142)	34,103,087 (-142, +142)
esv3647636	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	34,394,771 (-142, +142)	34,499,076 (-142, +142)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16408903	inversion	SAMN00001059	Sequencing	Read depth and paired-end mapping	Heterozygous	3,175
essv16408904	inversion	SAMN00001105	Sequencing	Read depth and paired-end mapping	Heterozygous	2,391
essv16408905	inversion	SAMN00001144	Sequencing	Read depth and paired-end mapping	Heterozygous	2,992
essv16408906	inversion	SAMN00001186	Sequencing	Read depth and paired-end mapping	Heterozygous	3,005
essv16408907	inversion	SAMN00001188	Sequencing	Read depth and paired-end mapping	Heterozygous	2,659

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16408903	Remapped	Perfect	NC_000022.11:g.(33 998640_33998924)_( 34102945_34103229) inv	GRCh38.p12	First Pass	NC_000022.11	Chr22	33,998,782 (-142, +142)	34,103,087 (-142, +142)
essv16408904	Remapped	Perfect	NC_000022.11:g.(33 998640_33998924)_( 34102945_34103229) inv	GRCh38.p12	First Pass	NC_000022.11	Chr22	33,998,782 (-142, +142)	34,103,087 (-142, +142)
essv16408905	Remapped	Perfect	NC_000022.11:g.(33 998640_33998924)_( 34102945_34103229) inv	GRCh38.p12	First Pass	NC_000022.11	Chr22	33,998,782 (-142, +142)	34,103,087 (-142, +142)
essv16408906	Remapped	Perfect	NC_000022.11:g.(33 998640_33998924)_( 34102945_34103229) inv	GRCh38.p12	First Pass	NC_000022.11	Chr22	33,998,782 (-142, +142)	34,103,087 (-142, +142)
essv16408907	Remapped	Perfect	NC_000022.11:g.(33 998640_33998924)_( 34102945_34103229) inv	GRCh38.p12	First Pass	NC_000022.11	Chr22	33,998,782 (-142, +142)	34,103,087 (-142, +142)
essv16408903	Submitted genomic		NC_000022.10:g.(34 394629_34394913)_( 34498934_34499218) inv	GRCh37 (hg19)		NC_000022.10	Chr22	34,394,771 (-142, +142)	34,499,076 (-142, +142)
essv16408904	Submitted genomic		NC_000022.10:g.(34 394629_34394913)_( 34498934_34499218) inv	GRCh37 (hg19)		NC_000022.10	Chr22	34,394,771 (-142, +142)	34,499,076 (-142, +142)
essv16408905	Submitted genomic		NC_000022.10:g.(34 394629_34394913)_( 34498934_34499218) inv	GRCh37 (hg19)		NC_000022.10	Chr22	34,394,771 (-142, +142)	34,499,076 (-142, +142)
essv16408906	Submitted genomic		NC_000022.10:g.(34 394629_34394913)_( 34498934_34499218) inv	GRCh37 (hg19)		NC_000022.10	Chr22	34,394,771 (-142, +142)	34,499,076 (-142, +142)
essv16408907	Submitted genomic		NC_000022.10:g.(34 394629_34394913)_( 34498934_34499218) inv	GRCh37 (hg19)		NC_000022.10	Chr22	34,394,771 (-142, +142)	34,499,076 (-142, +142)

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.

You are here: NCBI