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dbVar

Database of genomic structural variation

esv3495441

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:38,875

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

Remapped(Score: Perfect):11,361,898-11,401,346

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3495441	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	11,362,186 (-288, +286)	11,401,060 (-293, +286)
esv3495441	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	11,515,120 (-288, +286)	11,553,994 (-293, +286)
esv3495441	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000012.10	Chr12	11,406,387 (-288, +286)	11,445,261 (-293, +286)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv9198258	deletion	SAMN00001581	Sequencing	Paired-end mapping	12,254
essv9198260	deletion	SAMN00001694	Sequencing	Paired-end mapping	29,487
essv9198261	deletion	SAMN00001591	Sequencing	Paired-end mapping	13,341
essv9198262	deletion	SAMN00001576	Sequencing	Paired-end mapping	3,660
essv9198263	deletion	SAMN00001632	Sequencing	Paired-end mapping	10,836
essv9198264	deletion	SAMN00001625	Sequencing	Paired-end mapping	10,737

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv9198258	Remapped	Perfect	NC_000012.12:g.(11 361898_11362472)_( 11400767_11401346) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,362,186 (-288, +286)	11,401,060 (-293, +286)
essv9198260	Remapped	Perfect	NC_000012.12:g.(11 361898_11362472)_( 11400767_11401346) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,362,186 (-288, +286)	11,401,060 (-293, +286)
essv9198261	Remapped	Perfect	NC_000012.12:g.(11 361898_11362472)_( 11400767_11401346) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,362,186 (-288, +286)	11,401,060 (-293, +286)
essv9198262	Remapped	Perfect	NC_000012.12:g.(11 361898_11362472)_( 11400767_11401346) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,362,186 (-288, +286)	11,401,060 (-293, +286)
essv9198263	Remapped	Perfect	NC_000012.12:g.(11 361898_11362472)_( 11400767_11401346) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,362,186 (-288, +286)	11,401,060 (-293, +286)
essv9198264	Remapped	Perfect	NC_000012.12:g.(11 361898_11362472)_( 11400767_11401346) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,362,186 (-288, +286)	11,401,060 (-293, +286)
essv9198258	Remapped	Perfect	NC_000012.11:g.(11 514832_11515406)_( 11553701_11554280) del	GRCh37.p13	First Pass	NC_000012.11	Chr12	11,515,120 (-288, +286)	11,553,994 (-293, +286)
essv9198260	Remapped	Perfect	NC_000012.11:g.(11 514832_11515406)_( 11553701_11554280) del	GRCh37.p13	First Pass	NC_000012.11	Chr12	11,515,120 (-288, +286)	11,553,994 (-293, +286)
essv9198261	Remapped	Perfect	NC_000012.11:g.(11 514832_11515406)_( 11553701_11554280) del	GRCh37.p13	First Pass	NC_000012.11	Chr12	11,515,120 (-288, +286)	11,553,994 (-293, +286)
essv9198262	Remapped	Perfect	NC_000012.11:g.(11 514832_11515406)_( 11553701_11554280) del	GRCh37.p13	First Pass	NC_000012.11	Chr12	11,515,120 (-288, +286)	11,553,994 (-293, +286)
essv9198263	Remapped	Perfect	NC_000012.11:g.(11 514832_11515406)_( 11553701_11554280) del	GRCh37.p13	First Pass	NC_000012.11	Chr12	11,515,120 (-288, +286)	11,553,994 (-293, +286)
essv9198264	Remapped	Perfect	NC_000012.11:g.(11 514832_11515406)_( 11553701_11554280) del	GRCh37.p13	First Pass	NC_000012.11	Chr12	11,515,120 (-288, +286)	11,553,994 (-293, +286)
essv9198258	Submitted genomic		NC_000012.10:g.(11 406099_11406673)_( 11444968_11445547) del	NCBI36 (hg18)		NC_000012.10	Chr12	11,406,387 (-288, +286)	11,445,261 (-293, +286)
essv9198260	Submitted genomic		NC_000012.10:g.(11 406099_11406673)_( 11444968_11445547) del	NCBI36 (hg18)		NC_000012.10	Chr12	11,406,387 (-288, +286)	11,445,261 (-293, +286)
essv9198261	Submitted genomic		NC_000012.10:g.(11 406099_11406673)_( 11444968_11445547) del	NCBI36 (hg18)		NC_000012.10	Chr12	11,406,387 (-288, +286)	11,445,261 (-293, +286)
essv9198262	Submitted genomic		NC_000012.10:g.(11 406099_11406673)_( 11444968_11445547) del	NCBI36 (hg18)		NC_000012.10	Chr12	11,406,387 (-288, +286)	11,445,261 (-293, +286)
essv9198263	Submitted genomic		NC_000012.10:g.(11 406099_11406673)_( 11444968_11445547) del	NCBI36 (hg18)		NC_000012.10	Chr12	11,406,387 (-288, +286)	11,445,261 (-293, +286)
essv9198264	Submitted genomic		NC_000012.10:g.(11 406099_11406673)_( 11444968_11445547) del	NCBI36 (hg18)		NC_000012.10	Chr12	11,406,387 (-288, +286)	11,445,261 (-293, +286)

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv9198262	36	SAMN00001576	Digital array	Other	Pass
essv9198262	38	SAMN00001576	Digital array	Other	Pass
essv9198258	36	SAMN00001581	Digital array	Other	Pass
essv9198258	38	SAMN00001581	Digital array	Other	Pass
essv9198261	36	SAMN00001591	Digital array	Other	Pass
essv9198261	38	SAMN00001591	Digital array	Other	Pass
essv9198264	36	SAMN00001625	Digital array	Other	Pass
essv9198264	38	SAMN00001625	Digital array	Other	Pass
essv9198263	36	SAMN00001632	Digital array	Other	Pass
essv9198263	38	SAMN00001632	Digital array	Other	Pass
essv9198260	36	SAMN00001694	Digital array	Other	Pass
essv9198260	38	SAMN00001694	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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