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dbVar

Database of genomic structural variation

esv3589903

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:41,345

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: 335 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):15,016,169-15,057,813

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3589903	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	15,016,319 (-150, +150)	15,057,663 (-150, +150)
esv3589903	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	15,156,443 (-150, +150)	15,197,787 (-150, +150)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv10415056	deletion	SAMN00249814	Sequencing	Read depth and paired-end mapping	Heterozygous	2,794
essv10415057	deletion	SAMN00249829	Sequencing	Read depth and paired-end mapping	Heterozygous	2,687
essv10415058	deletion	SAMN00249739	Sequencing	Read depth and paired-end mapping	Heterozygous	2,477
essv10415059	deletion	SAMN01090879	Sequencing	Read depth and paired-end mapping	Heterozygous	2,917
essv10415060	deletion	SAMN00000439	Sequencing	Read depth and paired-end mapping	Heterozygous	2,450

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv10415056	Remapped	Perfect	NC_000002.12:g.(15 016169_15016469)_( 15057513_15057813) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	15,016,319 (-150, +150)	15,057,663 (-150, +150)
essv10415057	Remapped	Perfect	NC_000002.12:g.(15 016169_15016469)_( 15057513_15057813) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	15,016,319 (-150, +150)	15,057,663 (-150, +150)
essv10415058	Remapped	Perfect	NC_000002.12:g.(15 016169_15016469)_( 15057513_15057813) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	15,016,319 (-150, +150)	15,057,663 (-150, +150)
essv10415059	Remapped	Perfect	NC_000002.12:g.(15 016169_15016469)_( 15057513_15057813) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	15,016,319 (-150, +150)	15,057,663 (-150, +150)
essv10415060	Remapped	Perfect	NC_000002.12:g.(15 016169_15016469)_( 15057513_15057813) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	15,016,319 (-150, +150)	15,057,663 (-150, +150)
essv10415056	Submitted genomic		NC_000002.11:g.(15 156293_15156593)_( 15197637_15197937) del	GRCh37 (hg19)		NC_000002.11	Chr2	15,156,443 (-150, +150)	15,197,787 (-150, +150)
essv10415057	Submitted genomic		NC_000002.11:g.(15 156293_15156593)_( 15197637_15197937) del	GRCh37 (hg19)		NC_000002.11	Chr2	15,156,443 (-150, +150)	15,197,787 (-150, +150)
essv10415058	Submitted genomic		NC_000002.11:g.(15 156293_15156593)_( 15197637_15197937) del	GRCh37 (hg19)		NC_000002.11	Chr2	15,156,443 (-150, +150)	15,197,787 (-150, +150)
essv10415059	Submitted genomic		NC_000002.11:g.(15 156293_15156593)_( 15197637_15197937) del	GRCh37 (hg19)		NC_000002.11	Chr2	15,156,443 (-150, +150)	15,197,787 (-150, +150)
essv10415060	Submitted genomic		NC_000002.11:g.(15 156293_15156593)_( 15197637_15197937) del	GRCh37 (hg19)		NC_000002.11	Chr2	15,156,443 (-150, +150)	15,197,787 (-150, +150)

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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