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dbVar

Database of genomic structural variation

esv3848141

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:6
Validation:Not tested
Clinical Assertions: No
Region Size:17,763

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: 356 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):6,998,950-7,016,834

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3848141	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	6,999,011 (-61, +61)	7,016,773 (-61, +61)
esv3848141	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	7,038,642 (-61, +61)	7,056,404 (-61, +61)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20526234	deletion	HG00346	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,334
essv20526235	deletion	HG03054	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,343
essv20526236	deletion	HG03126	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,992
essv20526237	deletion	HG03169	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,796
essv20526238	deletion	NA19020	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,694
essv20526239	deletion	NA20752	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,736

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20526234	Remapped	Perfect	NC_000007.14:g.(69 98950_6999072)_(70 16712_7016834)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	6,999,011 (-61, +61)	7,016,773 (-61, +61)
essv20526235	Remapped	Perfect	NC_000007.14:g.(69 98950_6999072)_(70 16712_7016834)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	6,999,011 (-61, +61)	7,016,773 (-61, +61)
essv20526236	Remapped	Perfect	NC_000007.14:g.(69 98950_6999072)_(70 16712_7016834)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	6,999,011 (-61, +61)	7,016,773 (-61, +61)
essv20526237	Remapped	Perfect	NC_000007.14:g.(69 98950_6999072)_(70 16712_7016834)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	6,999,011 (-61, +61)	7,016,773 (-61, +61)
essv20526238	Remapped	Perfect	NC_000007.14:g.(69 98950_6999072)_(70 16712_7016834)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	6,999,011 (-61, +61)	7,016,773 (-61, +61)
essv20526239	Remapped	Perfect	NC_000007.14:g.(69 98950_6999072)_(70 16712_7016834)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	6,999,011 (-61, +61)	7,016,773 (-61, +61)
essv20526234	Submitted genomic		NC_000007.13:g.(70 38581_7038703)_(70 56343_7056465)del	GRCh37 (hg19)		NC_000007.13	Chr7	7,038,642 (-61, +61)	7,056,404 (-61, +61)
essv20526235	Submitted genomic		NC_000007.13:g.(70 38581_7038703)_(70 56343_7056465)del	GRCh37 (hg19)		NC_000007.13	Chr7	7,038,642 (-61, +61)	7,056,404 (-61, +61)
essv20526236	Submitted genomic		NC_000007.13:g.(70 38581_7038703)_(70 56343_7056465)del	GRCh37 (hg19)		NC_000007.13	Chr7	7,038,642 (-61, +61)	7,056,404 (-61, +61)
essv20526237	Submitted genomic		NC_000007.13:g.(70 38581_7038703)_(70 56343_7056465)del	GRCh37 (hg19)		NC_000007.13	Chr7	7,038,642 (-61, +61)	7,056,404 (-61, +61)
essv20526238	Submitted genomic		NC_000007.13:g.(70 38581_7038703)_(70 56343_7056465)del	GRCh37 (hg19)		NC_000007.13	Chr7	7,038,642 (-61, +61)	7,056,404 (-61, +61)
essv20526239	Submitted genomic		NC_000007.13:g.(70 38581_7038703)_(70 56343_7056465)del	GRCh37 (hg19)		NC_000007.13	Chr7	7,038,642 (-61, +61)	7,056,404 (-61, +61)

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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