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dbVar

Database of genomic structural variation

esv3864925

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:10,633

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 201 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):89,646,045-89,656,693

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3864925	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	89,646,053 (-8, +8)	89,656,685 (-8, +8)
esv3864925	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	89,379,221 (-8, +8)	89,389,853 (-8, +8)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv22508993	deletion	HG00109	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,672
essv22508994	deletion	HG00240	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,318
essv22508995	deletion	HG00326	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,173
essv22508996	deletion	HG01789	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,727
essv22508997	deletion	NA12144	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,728

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv22508993	Remapped	Perfect	NC_000011.10:g.(89 646045_89646061)_( 89656677_89656693) del	GRCh38.p12	First Pass	NC_000011.10	Chr11	89,646,053 (-8, +8)	89,656,685 (-8, +8)
essv22508994	Remapped	Perfect	NC_000011.10:g.(89 646045_89646061)_( 89656677_89656693) del	GRCh38.p12	First Pass	NC_000011.10	Chr11	89,646,053 (-8, +8)	89,656,685 (-8, +8)
essv22508995	Remapped	Perfect	NC_000011.10:g.(89 646045_89646061)_( 89656677_89656693) del	GRCh38.p12	First Pass	NC_000011.10	Chr11	89,646,053 (-8, +8)	89,656,685 (-8, +8)
essv22508996	Remapped	Perfect	NC_000011.10:g.(89 646045_89646061)_( 89656677_89656693) del	GRCh38.p12	First Pass	NC_000011.10	Chr11	89,646,053 (-8, +8)	89,656,685 (-8, +8)
essv22508997	Remapped	Perfect	NC_000011.10:g.(89 646045_89646061)_( 89656677_89656693) del	GRCh38.p12	First Pass	NC_000011.10	Chr11	89,646,053 (-8, +8)	89,656,685 (-8, +8)
essv22508993	Submitted genomic		NC_000011.9:g.(893 79213_89379229)_(8 9389845_89389861)d el	GRCh37 (hg19)		NC_000011.9	Chr11	89,379,221 (-8, +8)	89,389,853 (-8, +8)
essv22508994	Submitted genomic		NC_000011.9:g.(893 79213_89379229)_(8 9389845_89389861)d el	GRCh37 (hg19)		NC_000011.9	Chr11	89,379,221 (-8, +8)	89,389,853 (-8, +8)
essv22508995	Submitted genomic		NC_000011.9:g.(893 79213_89379229)_(8 9389845_89389861)d el	GRCh37 (hg19)		NC_000011.9	Chr11	89,379,221 (-8, +8)	89,389,853 (-8, +8)
essv22508996	Submitted genomic		NC_000011.9:g.(893 79213_89379229)_(8 9389845_89389861)d el	GRCh37 (hg19)		NC_000011.9	Chr11	89,379,221 (-8, +8)	89,389,853 (-8, +8)
essv22508997	Submitted genomic		NC_000011.9:g.(893 79213_89379229)_(8 9389845_89389861)d el	GRCh37 (hg19)		NC_000011.9	Chr11	89,379,221 (-8, +8)	89,389,853 (-8, +8)

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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