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dbVar

Database of genomic structural variation

esv3824114

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:7
Validation:Not tested
Clinical Assertions: No
Region Size:11,201

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: 161 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):46,740,415-46,752,005

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3824114	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	46,740,636 (-221, +0)	46,751,836 (-0, +169)
esv3824114	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	46,967,775 (-221, +0)	46,978,975 (-0, +169)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv17645258	deletion	HG02981	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,215
essv17645259	deletion	HG03130	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,940
essv17645260	deletion	HG03458	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,820
essv17645261	deletion	HG03514	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,779
essv17645262	deletion	NA18504	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,958
essv17645263	deletion	NA18909	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,010
essv17645264	deletion	NA19020	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,694

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv17645258	Remapped	Perfect	NC_000002.12:g.(46 740415_46740636)_( 46751836_46752005) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	46,740,636 (-221, +0)	46,751,836 (-0, +169)
essv17645259	Remapped	Perfect	NC_000002.12:g.(46 740415_46740636)_( 46751836_46752005) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	46,740,636 (-221, +0)	46,751,836 (-0, +169)
essv17645260	Remapped	Perfect	NC_000002.12:g.(46 740415_46740636)_( 46751836_46752005) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	46,740,636 (-221, +0)	46,751,836 (-0, +169)
essv17645261	Remapped	Perfect	NC_000002.12:g.(46 740415_46740636)_( 46751836_46752005) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	46,740,636 (-221, +0)	46,751,836 (-0, +169)
essv17645262	Remapped	Perfect	NC_000002.12:g.(46 740415_46740636)_( 46751836_46752005) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	46,740,636 (-221, +0)	46,751,836 (-0, +169)
essv17645263	Remapped	Perfect	NC_000002.12:g.(46 740415_46740636)_( 46751836_46752005) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	46,740,636 (-221, +0)	46,751,836 (-0, +169)
essv17645264	Remapped	Perfect	NC_000002.12:g.(46 740415_46740636)_( 46751836_46752005) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	46,740,636 (-221, +0)	46,751,836 (-0, +169)
essv17645258	Submitted genomic		NC_000002.11:g.(46 967554_46967775)_( 46978975_46979144) del	GRCh37 (hg19)		NC_000002.11	Chr2	46,967,775 (-221, +0)	46,978,975 (-0, +169)
essv17645259	Submitted genomic		NC_000002.11:g.(46 967554_46967775)_( 46978975_46979144) del	GRCh37 (hg19)		NC_000002.11	Chr2	46,967,775 (-221, +0)	46,978,975 (-0, +169)
essv17645260	Submitted genomic		NC_000002.11:g.(46 967554_46967775)_( 46978975_46979144) del	GRCh37 (hg19)		NC_000002.11	Chr2	46,967,775 (-221, +0)	46,978,975 (-0, +169)
essv17645261	Submitted genomic		NC_000002.11:g.(46 967554_46967775)_( 46978975_46979144) del	GRCh37 (hg19)		NC_000002.11	Chr2	46,967,775 (-221, +0)	46,978,975 (-0, +169)
essv17645262	Submitted genomic		NC_000002.11:g.(46 967554_46967775)_( 46978975_46979144) del	GRCh37 (hg19)		NC_000002.11	Chr2	46,967,775 (-221, +0)	46,978,975 (-0, +169)
essv17645263	Submitted genomic		NC_000002.11:g.(46 967554_46967775)_( 46978975_46979144) del	GRCh37 (hg19)		NC_000002.11	Chr2	46,967,775 (-221, +0)	46,978,975 (-0, +169)
essv17645264	Submitted genomic		NC_000002.11:g.(46 967554_46967775)_( 46978975_46979144) del	GRCh37 (hg19)		NC_000002.11	Chr2	46,967,775 (-221, +0)	46,978,975 (-0, +169)

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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