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dbVar

Database of genomic structural variation

esv3470606

Organism: Homo sapiens

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

Variant Calls:4
Validation:Yes
Clinical Assertions: No
Region Size:40,609

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: 293 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):101,830,911-101,871,768

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3470606	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	101,831,038 (-127, +121)	101,871,646 (-136, +122)
esv3470606	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	101,166,742 (-127, +121)	101,207,350 (-136, +122)
esv3470606	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000005.8	Chr5	101,194,641 (-127, +121)	101,235,249 (-136, +122)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv9085012	deletion	SAMN00001581	Sequencing	Paired-end mapping	12,254
essv9085013	deletion	SAMN00001691	Sequencing	Paired-end mapping	4,129
essv9085015	deletion	SAMN00001583	Sequencing	Paired-end mapping	12,092
essv9085016	deletion	SAMN00001673	Sequencing	Paired-end mapping	7,469

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv9085012	Remapped	Perfect	NC_000005.10:g.(10 1830911_101831159) _(101871510_101871 768)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,831,038 (-127, +121)	101,871,646 (-136, +122)
essv9085013	Remapped	Perfect	NC_000005.10:g.(10 1830911_101831159) _(101871510_101871 768)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,831,038 (-127, +121)	101,871,646 (-136, +122)
essv9085015	Remapped	Perfect	NC_000005.10:g.(10 1830911_101831159) _(101871510_101871 768)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,831,038 (-127, +121)	101,871,646 (-136, +122)
essv9085016	Remapped	Perfect	NC_000005.10:g.(10 1830911_101831159) _(101871510_101871 768)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,831,038 (-127, +121)	101,871,646 (-136, +122)
essv9085012	Remapped	Perfect	NC_000005.9:g.(101 166615_101166863)_ (101207214_1012074 72)del	GRCh37.p13	First Pass	NC_000005.9	Chr5	101,166,742 (-127, +121)	101,207,350 (-136, +122)
essv9085013	Remapped	Perfect	NC_000005.9:g.(101 166615_101166863)_ (101207214_1012074 72)del	GRCh37.p13	First Pass	NC_000005.9	Chr5	101,166,742 (-127, +121)	101,207,350 (-136, +122)
essv9085015	Remapped	Perfect	NC_000005.9:g.(101 166615_101166863)_ (101207214_1012074 72)del	GRCh37.p13	First Pass	NC_000005.9	Chr5	101,166,742 (-127, +121)	101,207,350 (-136, +122)
essv9085016	Remapped	Perfect	NC_000005.9:g.(101 166615_101166863)_ (101207214_1012074 72)del	GRCh37.p13	First Pass	NC_000005.9	Chr5	101,166,742 (-127, +121)	101,207,350 (-136, +122)
essv9085012	Submitted genomic		NC_000005.8:g.(101 194514_101194762)_ (101235113_1012353 71)del	NCBI36 (hg18)		NC_000005.8	Chr5	101,194,641 (-127, +121)	101,235,249 (-136, +122)
essv9085013	Submitted genomic		NC_000005.8:g.(101 194514_101194762)_ (101235113_1012353 71)del	NCBI36 (hg18)		NC_000005.8	Chr5	101,194,641 (-127, +121)	101,235,249 (-136, +122)
essv9085015	Submitted genomic		NC_000005.8:g.(101 194514_101194762)_ (101235113_1012353 71)del	NCBI36 (hg18)		NC_000005.8	Chr5	101,194,641 (-127, +121)	101,235,249 (-136, +122)
essv9085016	Submitted genomic		NC_000005.8:g.(101 194514_101194762)_ (101235113_1012353 71)del	NCBI36 (hg18)		NC_000005.8	Chr5	101,194,641 (-127, +121)	101,235,249 (-136, +122)

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv9085012	36	SAMN00001581	Digital array	Other	Pass
essv9085012	38	SAMN00001581	Digital array	Other	Pass
essv9085015	36	SAMN00001583	Digital array	Other	Pass
essv9085015	38	SAMN00001583	Digital array	Other	Pass
essv9085016	36	SAMN00001673	Digital array	Other	Pass
essv9085016	38	SAMN00001673	Digital array	Other	Pass
essv9085013	36	SAMN00001691	Digital array	Other	Pass
essv9085013	38	SAMN00001691	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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