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dbVar

Database of genomic structural variation

esv3643288

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:164,043

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: 1081 SVs from 72 studies. See in: genome view

Remapped(Score: Perfect):79,087,927-79,251,969

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3643288	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	79,087,927	79,251,969
esv3643288	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	76,847,927	77,011,969

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv15955980	copy number loss	SAMN01036743	Sequencing	Read depth and paired-end mapping	Heterozygous	2,892
essv15955981	copy number loss	SAMN00797021	Sequencing	Read depth and paired-end mapping	Heterozygous	3,011
essv15955982	copy number gain	SAMN00000519	Sequencing	Read depth and paired-end mapping	Heterozygous	2,691

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv15955980	Remapped	Perfect	NC_000018.10:g.790 87927_79251969del	GRCh38.p12	First Pass	NC_000018.10	Chr18	79,087,927	79,251,969
essv15955981	Remapped	Perfect	NC_000018.10:g.790 87927_79251969del	GRCh38.p12	First Pass	NC_000018.10	Chr18	79,087,927	79,251,969
essv15955982	Remapped	Perfect	NC_000018.10:g.790 87927_79251969dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	79,087,927	79,251,969
essv15955980	Submitted genomic		NC_000018.9:g.7684 7927_77011969del	GRCh37 (hg19)		NC_000018.9	Chr18	76,847,927	77,011,969
essv15955981	Submitted genomic		NC_000018.9:g.7684 7927_77011969del	GRCh37 (hg19)		NC_000018.9	Chr18	76,847,927	77,011,969
essv15955982	Submitted genomic		NC_000018.9:g.7684 7927_77011969dup	GRCh37 (hg19)		NC_000018.9	Chr18	76,847,927	77,011,969

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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