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dbVar

Database of genomic structural variation

esv3854593

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:48,787

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: 476 SVs from 73 studies. See in: genome view

Remapped(Score: Perfect):85,602,457-85,651,272

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3854593	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	85,602,471 (-14, +15)	85,651,257 (-14, +15)
esv3854593	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	86,514,700 (-14, +15)	86,563,486 (-14, +15)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv21249993	deletion	HG02410	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,705
essv21249994	deletion	HG03294	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,594
essv21249995	deletion	NA18557	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,575
essv21249996	deletion	NA18634	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,077
essv21249997	deletion	NA19038	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,670

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv21249993	Remapped	Perfect	NC_000008.11:g.(85 602457_85602486)_( 85651243_85651272) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	85,602,471 (-14, +15)	85,651,257 (-14, +15)
essv21249994	Remapped	Perfect	NC_000008.11:g.(85 602457_85602486)_( 85651243_85651272) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	85,602,471 (-14, +15)	85,651,257 (-14, +15)
essv21249995	Remapped	Perfect	NC_000008.11:g.(85 602457_85602486)_( 85651243_85651272) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	85,602,471 (-14, +15)	85,651,257 (-14, +15)
essv21249996	Remapped	Perfect	NC_000008.11:g.(85 602457_85602486)_( 85651243_85651272) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	85,602,471 (-14, +15)	85,651,257 (-14, +15)
essv21249997	Remapped	Perfect	NC_000008.11:g.(85 602457_85602486)_( 85651243_85651272) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	85,602,471 (-14, +15)	85,651,257 (-14, +15)
essv21249993	Submitted genomic		NC_000008.10:g.(86 514686_86514715)_( 86563472_86563501) del	GRCh37 (hg19)		NC_000008.10	Chr8	86,514,700 (-14, +15)	86,563,486 (-14, +15)
essv21249994	Submitted genomic		NC_000008.10:g.(86 514686_86514715)_( 86563472_86563501) del	GRCh37 (hg19)		NC_000008.10	Chr8	86,514,700 (-14, +15)	86,563,486 (-14, +15)
essv21249995	Submitted genomic		NC_000008.10:g.(86 514686_86514715)_( 86563472_86563501) del	GRCh37 (hg19)		NC_000008.10	Chr8	86,514,700 (-14, +15)	86,563,486 (-14, +15)
essv21249996	Submitted genomic		NC_000008.10:g.(86 514686_86514715)_( 86563472_86563501) del	GRCh37 (hg19)		NC_000008.10	Chr8	86,514,700 (-14, +15)	86,563,486 (-14, +15)
essv21249997	Submitted genomic		NC_000008.10:g.(86 514686_86514715)_( 86563472_86563501) del	GRCh37 (hg19)		NC_000008.10	Chr8	86,514,700 (-14, +15)	86,563,486 (-14, +15)

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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