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

dbVar

Database of genomic structural variation

esv2657105

Organism: Homo sapiens

Study:estd199 (1000 Genomes Consortium Phase 1)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:3
Validation:Yes
Clinical Assertions: No
Region Size:341,913

Publication(s):1000 Genomes Project Consortium et al. 2012

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: 744 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):153,385,677-153,727,589

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
esv2657105	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	153,385,677	153,385,711	153,727,554	153,727,589
esv2657105	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	152,765,237	152,765,271	153,107,114	153,107,149

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5812527	deletion	SAMN00006474	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,703
essv6066936	deletion	SAMN00006523	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,722
essv6346483	deletion	SAMN00006565	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,730

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5812527	Remapped	Perfect	NC_000005.10:g.(15 3385677_153385711) _(153727554_153727 589)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	153,385,677	153,385,711	153,727,554	153,727,589
essv6066936	Remapped	Perfect	NC_000005.10:g.(15 3385677_153385711) _(153727554_153727 589)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	153,385,677	153,385,711	153,727,554	153,727,589
essv6346483	Remapped	Perfect	NC_000005.10:g.(15 3385677_153385711) _(153727554_153727 589)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	153,385,677	153,385,711	153,727,554	153,727,589
essv5812527	Submitted genomic		NC_000005.9:g.(152 765237_152765271)_ (153107114_1531071 49)del	GRCh37 (hg19)		NC_000005.9	Chr5	152,765,237	152,765,271	153,107,114	153,107,149
essv6066936	Submitted genomic		NC_000005.9:g.(152 765237_152765271)_ (153107114_1531071 49)del	GRCh37 (hg19)		NC_000005.9	Chr5	152,765,237	152,765,271	153,107,114	153,107,149
essv6346483	Submitted genomic		NC_000005.9:g.(152 765237_152765271)_ (153107114_1531071 49)del	GRCh37 (hg19)		NC_000005.9	Chr5	152,765,237	152,765,271	153,107,114	153,107,149

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5812527	7	SAMN00006474	SNP array	Probe signal intensity	Pass
essv6066936	7	SAMN00006523	SNP array	Probe signal intensity	Pass
essv6346483	7	SAMN00006565	SNP array	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

You are here: NCBI