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

dbVar

Database of genomic structural variation

esv3616771

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:13,316

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: 260 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):29,616,551-29,631,866

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3616771	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	29,617,551 (-1000, +500)	29,630,866 (-500, +1000)
esv3616771	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	29,475,067 (-1000, +500)	29,488,382 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv13153626	deletion	SAMN01090994	Sequencing	Read depth and paired-end mapping	Heterozygous	2,826
essv13153627	deletion	SAMN01096800	Sequencing	Read depth and paired-end mapping	Heterozygous	2,625
essv13153628	deletion	SAMN01761573	Sequencing	Read depth and paired-end mapping	Heterozygous	2,198

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv13153626	Remapped	Perfect	NC_000008.11:g.(29 616551_29618051)_( 29630366_29631866) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	29,617,551 (-1000, +500)	29,630,866 (-500, +1000)
essv13153627	Remapped	Perfect	NC_000008.11:g.(29 616551_29618051)_( 29630366_29631866) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	29,617,551 (-1000, +500)	29,630,866 (-500, +1000)
essv13153628	Remapped	Perfect	NC_000008.11:g.(29 616551_29618051)_( 29630366_29631866) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	29,617,551 (-1000, +500)	29,630,866 (-500, +1000)
essv13153626	Submitted genomic		NC_000008.10:g.(29 474067_29475567)_( 29487882_29489382) del	GRCh37 (hg19)		NC_000008.10	Chr8	29,475,067 (-1000, +500)	29,488,382 (-500, +1000)
essv13153627	Submitted genomic		NC_000008.10:g.(29 474067_29475567)_( 29487882_29489382) del	GRCh37 (hg19)		NC_000008.10	Chr8	29,475,067 (-1000, +500)	29,488,382 (-500, +1000)
essv13153628	Submitted genomic		NC_000008.10:g.(29 474067_29475567)_( 29487882_29489382) del	GRCh37 (hg19)		NC_000008.10	Chr8	29,475,067 (-1000, +500)	29,488,382 (-500, +1000)

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