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dbVar

Database of genomic structural variation

esv3638633

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:11,383

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: 129 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):52,563,734-52,575,606

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3638633	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	52,563,979 (-245, +245)	52,575,361 (-245, +245)
esv3638633	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	52,597,891 (-245, +245)	52,609,273 (-245, +245)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv15478689	inversion	SAMN01090980	Sequencing	Read depth and paired-end mapping	Heterozygous	2,763
essv15478690	inversion	SAMN01096709	Sequencing	Read depth and paired-end mapping	Heterozygous	2,621
essv15478691	inversion	SAMN01761489	Sequencing	Read depth and paired-end mapping	Heterozygous	2,862

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv15478689	Remapped	Perfect	NC_000016.10:g.(52 563734_52564224)_( 52575116_52575606) inv	GRCh38.p12	First Pass	NC_000016.10	Chr16	52,563,979 (-245, +245)	52,575,361 (-245, +245)
essv15478690	Remapped	Perfect	NC_000016.10:g.(52 563734_52564224)_( 52575116_52575606) inv	GRCh38.p12	First Pass	NC_000016.10	Chr16	52,563,979 (-245, +245)	52,575,361 (-245, +245)
essv15478691	Remapped	Perfect	NC_000016.10:g.(52 563734_52564224)_( 52575116_52575606) inv	GRCh38.p12	First Pass	NC_000016.10	Chr16	52,563,979 (-245, +245)	52,575,361 (-245, +245)
essv15478689	Submitted genomic		NC_000016.9:g.(525 97646_52598136)_(5 2609028_52609518)i nv	GRCh37 (hg19)		NC_000016.9	Chr16	52,597,891 (-245, +245)	52,609,273 (-245, +245)
essv15478690	Submitted genomic		NC_000016.9:g.(525 97646_52598136)_(5 2609028_52609518)i nv	GRCh37 (hg19)		NC_000016.9	Chr16	52,597,891 (-245, +245)	52,609,273 (-245, +245)
essv15478691	Submitted genomic		NC_000016.9:g.(525 97646_52598136)_(5 2609028_52609518)i nv	GRCh37 (hg19)		NC_000016.9	Chr16	52,597,891 (-245, +245)	52,609,273 (-245, +245)

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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