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dbVar

Database of genomic structural variation

esv3633145

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:100,835

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: 471 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):90,971,569-91,072,415

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3633145	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	90,971,575 (-6, +6)	91,072,409 (-6, +6)
esv3633145	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	91,623,829 (-6, +6)	91,724,663 (-6, +6)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv14848254	deletion	SAMN00006523	Sequencing	Read depth and paired-end mapping	Heterozygous	2,511
essv14848255	deletion	SAMN01761292	Sequencing	Read depth and paired-end mapping	Heterozygous	3,255
essv14848256	deletion	SAMN01761250	Sequencing	Read depth and paired-end mapping	Heterozygous	3,382
essv14848257	deletion	SAMN00001117	Sequencing	Read depth and paired-end mapping	Heterozygous	4,071

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv14848254	Remapped	Perfect	NC_000013.11:g.(90 971569_90971581)_( 91072403_91072415) del	GRCh38.p12	First Pass	NC_000013.11	Chr13	90,971,575 (-6, +6)	91,072,409 (-6, +6)
essv14848255	Remapped	Perfect	NC_000013.11:g.(90 971569_90971581)_( 91072403_91072415) del	GRCh38.p12	First Pass	NC_000013.11	Chr13	90,971,575 (-6, +6)	91,072,409 (-6, +6)
essv14848256	Remapped	Perfect	NC_000013.11:g.(90 971569_90971581)_( 91072403_91072415) del	GRCh38.p12	First Pass	NC_000013.11	Chr13	90,971,575 (-6, +6)	91,072,409 (-6, +6)
essv14848257	Remapped	Perfect	NC_000013.11:g.(90 971569_90971581)_( 91072403_91072415) del	GRCh38.p12	First Pass	NC_000013.11	Chr13	90,971,575 (-6, +6)	91,072,409 (-6, +6)
essv14848254	Submitted genomic		NC_000013.10:g.(91 623823_91623835)_( 91724657_91724669) del	GRCh37 (hg19)		NC_000013.10	Chr13	91,623,829 (-6, +6)	91,724,663 (-6, +6)
essv14848255	Submitted genomic		NC_000013.10:g.(91 623823_91623835)_( 91724657_91724669) del	GRCh37 (hg19)		NC_000013.10	Chr13	91,623,829 (-6, +6)	91,724,663 (-6, +6)
essv14848256	Submitted genomic		NC_000013.10:g.(91 623823_91623835)_( 91724657_91724669) del	GRCh37 (hg19)		NC_000013.10	Chr13	91,623,829 (-6, +6)	91,724,663 (-6, +6)
essv14848257	Submitted genomic		NC_000013.10:g.(91 623823_91623835)_( 91724657_91724669) del	GRCh37 (hg19)		NC_000013.10	Chr13	91,623,829 (-6, +6)	91,724,663 (-6, +6)

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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