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dbVar

Database of genomic structural variation

esv3850891

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:44,485

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: 485 SVs from 78 studies. See in: genome view

Remapped(Score: Perfect):111,181,123-111,225,648

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3850891	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	111,181,143 (-20, +21)	111,225,627 (-20, +21)
esv3850891	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	110,821,199 (-20, +21)	110,865,683 (-20, +21)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20838314	deletion	HG01260	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,448
essv20838315	deletion	HG01372	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,363
essv20838316	deletion	HG01491	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,598
essv20838317	deletion	NA11995	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,073
essv20838318	deletion	NA12286	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,691

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20838314	Remapped	Perfect	NC_000007.14:g.(11 1181123_111181164) _(111225607_111225 648)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,181,143 (-20, +21)	111,225,627 (-20, +21)
essv20838315	Remapped	Perfect	NC_000007.14:g.(11 1181123_111181164) _(111225607_111225 648)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,181,143 (-20, +21)	111,225,627 (-20, +21)
essv20838316	Remapped	Perfect	NC_000007.14:g.(11 1181123_111181164) _(111225607_111225 648)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,181,143 (-20, +21)	111,225,627 (-20, +21)
essv20838317	Remapped	Perfect	NC_000007.14:g.(11 1181123_111181164) _(111225607_111225 648)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,181,143 (-20, +21)	111,225,627 (-20, +21)
essv20838318	Remapped	Perfect	NC_000007.14:g.(11 1181123_111181164) _(111225607_111225 648)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,181,143 (-20, +21)	111,225,627 (-20, +21)
essv20838314	Submitted genomic		NC_000007.13:g.(11 0821179_110821220) _(110865663_110865 704)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,821,199 (-20, +21)	110,865,683 (-20, +21)
essv20838315	Submitted genomic		NC_000007.13:g.(11 0821179_110821220) _(110865663_110865 704)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,821,199 (-20, +21)	110,865,683 (-20, +21)
essv20838316	Submitted genomic		NC_000007.13:g.(11 0821179_110821220) _(110865663_110865 704)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,821,199 (-20, +21)	110,865,683 (-20, +21)
essv20838317	Submitted genomic		NC_000007.13:g.(11 0821179_110821220) _(110865663_110865 704)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,821,199 (-20, +21)	110,865,683 (-20, +21)
essv20838318	Submitted genomic		NC_000007.13:g.(11 0821179_110821220) _(110865663_110865 704)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,821,199 (-20, +21)	110,865,683 (-20, +21)

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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