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dbVar

Database of genomic structural variation

esv3626834

Organism: Homo sapiens

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

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:603,344

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: 1664 SVs from 82 studies. See in: genome view

Remapped(Score: Perfect):74,225,450-74,829,093

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3626834	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	74,225,600 (-150, +150)	74,828,943 (-150, +150)
esv3626834	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	73,936,645 (-150, +150)	74,539,988 (-150, +150)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv14212839	duplication	SAMN00004660	Sequencing	Read depth and paired-end mapping	Heterozygous	2,465
essv14212840	duplication	SAMN00006370	Sequencing	Read depth and paired-end mapping	Heterozygous	2,238
essv14212841	duplication	SAMN00006432	Sequencing	Read depth and paired-end mapping	Heterozygous	2,258
essv14212842	duplication	SAMN01036706	Sequencing	Read depth and paired-end mapping	Heterozygous	3,223
essv14212843	duplication	SAMN00001615	Sequencing	Read depth and paired-end mapping	Heterozygous	2,784
essv14212844	duplication	SAMN00007818	Sequencing	Read depth and paired-end mapping	Heterozygous	2,857

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv14212839	Remapped	Perfect	NC_000011.10:g.(74 225450_74225750)_( 74828793_74829093) dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	74,225,600 (-150, +150)	74,828,943 (-150, +150)
essv14212840	Remapped	Perfect	NC_000011.10:g.(74 225450_74225750)_( 74828793_74829093) dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	74,225,600 (-150, +150)	74,828,943 (-150, +150)
essv14212841	Remapped	Perfect	NC_000011.10:g.(74 225450_74225750)_( 74828793_74829093) dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	74,225,600 (-150, +150)	74,828,943 (-150, +150)
essv14212842	Remapped	Perfect	NC_000011.10:g.(74 225450_74225750)_( 74828793_74829093) dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	74,225,600 (-150, +150)	74,828,943 (-150, +150)
essv14212843	Remapped	Perfect	NC_000011.10:g.(74 225450_74225750)_( 74828793_74829093) dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	74,225,600 (-150, +150)	74,828,943 (-150, +150)
essv14212844	Remapped	Perfect	NC_000011.10:g.(74 225450_74225750)_( 74828793_74829093) dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	74,225,600 (-150, +150)	74,828,943 (-150, +150)
essv14212839	Submitted genomic		NC_000011.9:g.(739 36495_73936795)_(7 4539838_74540138)d up	GRCh37 (hg19)		NC_000011.9	Chr11	73,936,645 (-150, +150)	74,539,988 (-150, +150)
essv14212840	Submitted genomic		NC_000011.9:g.(739 36495_73936795)_(7 4539838_74540138)d up	GRCh37 (hg19)		NC_000011.9	Chr11	73,936,645 (-150, +150)	74,539,988 (-150, +150)
essv14212841	Submitted genomic		NC_000011.9:g.(739 36495_73936795)_(7 4539838_74540138)d up	GRCh37 (hg19)		NC_000011.9	Chr11	73,936,645 (-150, +150)	74,539,988 (-150, +150)
essv14212842	Submitted genomic		NC_000011.9:g.(739 36495_73936795)_(7 4539838_74540138)d up	GRCh37 (hg19)		NC_000011.9	Chr11	73,936,645 (-150, +150)	74,539,988 (-150, +150)
essv14212843	Submitted genomic		NC_000011.9:g.(739 36495_73936795)_(7 4539838_74540138)d up	GRCh37 (hg19)		NC_000011.9	Chr11	73,936,645 (-150, +150)	74,539,988 (-150, +150)
essv14212844	Submitted genomic		NC_000011.9:g.(739 36495_73936795)_(7 4539838_74540138)d up	GRCh37 (hg19)		NC_000011.9	Chr11	73,936,645 (-150, +150)	74,539,988 (-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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