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dbVar

Database of genomic structural variation

esv3475045

Organism: Homo sapiens

Study:estd59 (1000 Genomes Consortium Pilot Project)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI36 (hg18)

Variant Calls:6
Validation:Yes
Clinical Assertions: No
Region Size:58,316

Publication(s):1000 Genomes Project Consortium et al. 2010

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: 2947 SVs from 86 studies. See in: genome view

Remapped(Score: Perfect):32,471,156-32,529,614

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3475045	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	32,471,229 (-73, +127)	32,529,544 (-120, +70)
esv3475045	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	32,439,006 (-73, +127)	32,497,321 (-120, +70)
esv3475045	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	32,546,984 (-73, +127)	32,605,299 (-120, +70)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv7917103	deletion	SAMN00801099	Sequencing	Paired-end mapping	14,647
essv7917104	deletion	SAMN00801684	Sequencing	Paired-end mapping	16,980
essv7917105	deletion	SAMN00801317	Sequencing	Paired-end mapping	13,343
essv7917106	deletion	SAMN00797419	Sequencing	Paired-end mapping	10,938
essv7917107	deletion	SAMN00001554	Sequencing	Paired-end mapping	9,542
essv7917108	deletion	SAMN00800266	Sequencing	Paired-end mapping	11,909

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv7917103	Remapped	Perfect	NC_000006.12:g.(32 471156_32471356)_( 32529424_32529614) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	32,471,229 (-73, +127)	32,529,544 (-120, +70)
essv7917104	Remapped	Perfect	NC_000006.12:g.(32 471156_32471356)_( 32529424_32529614) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	32,471,229 (-73, +127)	32,529,544 (-120, +70)
essv7917105	Remapped	Perfect	NC_000006.12:g.(32 471156_32471356)_( 32529424_32529614) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	32,471,229 (-73, +127)	32,529,544 (-120, +70)
essv7917106	Remapped	Perfect	NC_000006.12:g.(32 471156_32471356)_( 32529424_32529614) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	32,471,229 (-73, +127)	32,529,544 (-120, +70)
essv7917107	Remapped	Perfect	NC_000006.12:g.(32 471156_32471356)_( 32529424_32529614) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	32,471,229 (-73, +127)	32,529,544 (-120, +70)
essv7917108	Remapped	Perfect	NC_000006.12:g.(32 471156_32471356)_( 32529424_32529614) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	32,471,229 (-73, +127)	32,529,544 (-120, +70)
essv7917103	Remapped	Perfect	NC_000006.11:g.(32 438933_32439133)_( 32497201_32497391) del	GRCh37.p13	First Pass	NC_000006.11	Chr6	32,439,006 (-73, +127)	32,497,321 (-120, +70)
essv7917104	Remapped	Perfect	NC_000006.11:g.(32 438933_32439133)_( 32497201_32497391) del	GRCh37.p13	First Pass	NC_000006.11	Chr6	32,439,006 (-73, +127)	32,497,321 (-120, +70)
essv7917105	Remapped	Perfect	NC_000006.11:g.(32 438933_32439133)_( 32497201_32497391) del	GRCh37.p13	First Pass	NC_000006.11	Chr6	32,439,006 (-73, +127)	32,497,321 (-120, +70)
essv7917106	Remapped	Perfect	NC_000006.11:g.(32 438933_32439133)_( 32497201_32497391) del	GRCh37.p13	First Pass	NC_000006.11	Chr6	32,439,006 (-73, +127)	32,497,321 (-120, +70)
essv7917107	Remapped	Perfect	NC_000006.11:g.(32 438933_32439133)_( 32497201_32497391) del	GRCh37.p13	First Pass	NC_000006.11	Chr6	32,439,006 (-73, +127)	32,497,321 (-120, +70)
essv7917108	Remapped	Perfect	NC_000006.11:g.(32 438933_32439133)_( 32497201_32497391) del	GRCh37.p13	First Pass	NC_000006.11	Chr6	32,439,006 (-73, +127)	32,497,321 (-120, +70)
essv7917103	Submitted genomic		NC_000006.10:g.(32 546911_32547111)_( 32605179_32605369) del	NCBI36 (hg18)		NC_000006.10	Chr6	32,546,984 (-73, +127)	32,605,299 (-120, +70)
essv7917104	Submitted genomic		NC_000006.10:g.(32 546911_32547111)_( 32605179_32605369) del	NCBI36 (hg18)		NC_000006.10	Chr6	32,546,984 (-73, +127)	32,605,299 (-120, +70)
essv7917105	Submitted genomic		NC_000006.10:g.(32 546911_32547111)_( 32605179_32605369) del	NCBI36 (hg18)		NC_000006.10	Chr6	32,546,984 (-73, +127)	32,605,299 (-120, +70)
essv7917106	Submitted genomic		NC_000006.10:g.(32 546911_32547111)_( 32605179_32605369) del	NCBI36 (hg18)		NC_000006.10	Chr6	32,546,984 (-73, +127)	32,605,299 (-120, +70)
essv7917107	Submitted genomic		NC_000006.10:g.(32 546911_32547111)_( 32605179_32605369) del	NCBI36 (hg18)		NC_000006.10	Chr6	32,546,984 (-73, +127)	32,605,299 (-120, +70)
essv7917108	Submitted genomic		NC_000006.10:g.(32 546911_32547111)_( 32605179_32605369) del	NCBI36 (hg18)		NC_000006.10	Chr6	32,546,984 (-73, +127)	32,605,299 (-120, +70)

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv7917107	36	SAMN00001554	Digital array	Other	Pass
essv7917107	38	SAMN00001554	Digital array	Other	Pass
essv7917106	36	SAMN00797419	Digital array	Other	Pass
essv7917106	38	SAMN00797419	Digital array	Other	Pass
essv7917108	36	SAMN00800266	Digital array	Other	Pass
essv7917108	38	SAMN00800266	Digital array	Other	Pass
essv7917103	36	SAMN00801099	Digital array	Other	Pass
essv7917103	38	SAMN00801099	Digital array	Other	Pass
essv7917105	36	SAMN00801317	Digital array	Other	Pass
essv7917105	38	SAMN00801317	Digital array	Other	Pass
essv7917104	36	SAMN00801684	Digital array	Other	Pass
essv7917104	38	SAMN00801684	Digital array	Other	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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