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dbVar

Database of genomic structural variation

esv3437516

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:Not tested
Clinical Assertions: No
Region Size:45

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: 105 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):117,611,995-117,612,059

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3437516	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	117,612,010 (-15, +5)	117,612,054 (-14, +5)
esv3437516	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	117,252,064 (-15, +5)	117,252,108 (-14, +5)
esv3437516	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000007.12	Chr7	117,039,300 (-15, +5)	117,039,344 (-14, +5)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv7691828	deletion	SAMN00800947	Sequencing	Split read mapping	10,286
essv7691829	deletion	SAMN00001525	Sequencing	Split read mapping	19,957
essv7691830	deletion	SAMN00001589	Sequencing	Split read mapping	10,468
essv7691832	deletion	SAMN00801099	Sequencing	Split read mapping	14,647

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv7691828	Remapped	Perfect	NC_000007.14:g.(11 7611995_117612015) _(117612040_117612 059)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	117,612,010 (-15, +5)	117,612,054 (-14, +5)
essv7691829	Remapped	Perfect	NC_000007.14:g.(11 7611995_117612015) _(117612040_117612 059)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	117,612,010 (-15, +5)	117,612,054 (-14, +5)
essv7691830	Remapped	Perfect	NC_000007.14:g.(11 7611995_117612015) _(117612040_117612 059)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	117,612,010 (-15, +5)	117,612,054 (-14, +5)
essv7691832	Remapped	Perfect	NC_000007.14:g.(11 7611995_117612015) _(117612040_117612 059)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	117,612,010 (-15, +5)	117,612,054 (-14, +5)
essv7691828	Remapped	Perfect	NC_000007.13:g.(11 7252049_117252069) _(117252094_117252 113)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	117,252,064 (-15, +5)	117,252,108 (-14, +5)
essv7691829	Remapped	Perfect	NC_000007.13:g.(11 7252049_117252069) _(117252094_117252 113)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	117,252,064 (-15, +5)	117,252,108 (-14, +5)
essv7691830	Remapped	Perfect	NC_000007.13:g.(11 7252049_117252069) _(117252094_117252 113)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	117,252,064 (-15, +5)	117,252,108 (-14, +5)
essv7691832	Remapped	Perfect	NC_000007.13:g.(11 7252049_117252069) _(117252094_117252 113)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	117,252,064 (-15, +5)	117,252,108 (-14, +5)
essv7691828	Submitted genomic		NC_000007.12:g.(11 7039285_117039305) _(117039330_117039 349)del	NCBI36 (hg18)		NC_000007.12	Chr7	117,039,300 (-15, +5)	117,039,344 (-14, +5)
essv7691829	Submitted genomic		NC_000007.12:g.(11 7039285_117039305) _(117039330_117039 349)del	NCBI36 (hg18)		NC_000007.12	Chr7	117,039,300 (-15, +5)	117,039,344 (-14, +5)
essv7691830	Submitted genomic		NC_000007.12:g.(11 7039285_117039305) _(117039330_117039 349)del	NCBI36 (hg18)		NC_000007.12	Chr7	117,039,300 (-15, +5)	117,039,344 (-14, +5)
essv7691832	Submitted genomic		NC_000007.12:g.(11 7039285_117039305) _(117039330_117039 349)del	NCBI36 (hg18)		NC_000007.12	Chr7	117,039,300 (-15, +5)	117,039,344 (-14, +5)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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