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dbVar

Database of genomic structural variation

esv3408198

Organism: Homo sapiens

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

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:130

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: 126 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):85,262,096-85,262,425

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3408198	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	85,262,197 (-101, +99)	85,262,326 (-101, +99)
esv3408198	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	86,174,426 (-101, +99)	86,174,555 (-101, +99)
esv3408198	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000008.9	Chr8	86,361,678 (-101, +99)	86,361,807 (-101, +99)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv8671525	insertion	SAMN00001694	Sequencing	Paired-end mapping	29,487
essv8671526	insertion	SAMN00801914	Sequencing	Paired-end mapping	26,039
essv8671527	insertion	SAMN00001696	Sequencing	Paired-end mapping	44,056
essv8671528	insertion	SAMN00001695	Sequencing	Paired-end mapping	37,049
essv8671529	insertion	SAMN00801888	Sequencing	Paired-end mapping	69,298

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv8671525	Remapped	Perfect	NC_000008.11:g.(85 262096_85262296)_( 85262225_85262425) ins129	GRCh38.p12	First Pass	NC_000008.11	Chr8	85,262,197 (-101, +99)	85,262,326 (-101, +99)
essv8671526	Remapped	Perfect	NC_000008.11:g.(85 262096_85262296)_( 85262225_85262425) ins129	GRCh38.p12	First Pass	NC_000008.11	Chr8	85,262,197 (-101, +99)	85,262,326 (-101, +99)
essv8671527	Remapped	Perfect	NC_000008.11:g.(85 262096_85262296)_( 85262225_85262425) ins129	GRCh38.p12	First Pass	NC_000008.11	Chr8	85,262,197 (-101, +99)	85,262,326 (-101, +99)
essv8671528	Remapped	Perfect	NC_000008.11:g.(85 262096_85262296)_( 85262225_85262425) ins129	GRCh38.p12	First Pass	NC_000008.11	Chr8	85,262,197 (-101, +99)	85,262,326 (-101, +99)
essv8671529	Remapped	Perfect	NC_000008.11:g.(85 262096_85262296)_( 85262225_85262425) ins129	GRCh38.p12	First Pass	NC_000008.11	Chr8	85,262,197 (-101, +99)	85,262,326 (-101, +99)
essv8671525	Remapped	Perfect	NC_000008.10:g.(86 174325_86174525)_( 86174454_86174654) ins129	GRCh37.p13	First Pass	NC_000008.10	Chr8	86,174,426 (-101, +99)	86,174,555 (-101, +99)
essv8671526	Remapped	Perfect	NC_000008.10:g.(86 174325_86174525)_( 86174454_86174654) ins129	GRCh37.p13	First Pass	NC_000008.10	Chr8	86,174,426 (-101, +99)	86,174,555 (-101, +99)
essv8671527	Remapped	Perfect	NC_000008.10:g.(86 174325_86174525)_( 86174454_86174654) ins129	GRCh37.p13	First Pass	NC_000008.10	Chr8	86,174,426 (-101, +99)	86,174,555 (-101, +99)
essv8671528	Remapped	Perfect	NC_000008.10:g.(86 174325_86174525)_( 86174454_86174654) ins129	GRCh37.p13	First Pass	NC_000008.10	Chr8	86,174,426 (-101, +99)	86,174,555 (-101, +99)
essv8671529	Remapped	Perfect	NC_000008.10:g.(86 174325_86174525)_( 86174454_86174654) ins129	GRCh37.p13	First Pass	NC_000008.10	Chr8	86,174,426 (-101, +99)	86,174,555 (-101, +99)
essv8671525	Submitted genomic		NC_000008.9:g.(863 61577_86361777)_(8 6361706_86361906)i ns129	NCBI36 (hg18)		NC_000008.9	Chr8	86,361,678 (-101, +99)	86,361,807 (-101, +99)
essv8671526	Submitted genomic		NC_000008.9:g.(863 61577_86361777)_(8 6361706_86361906)i ns129	NCBI36 (hg18)		NC_000008.9	Chr8	86,361,678 (-101, +99)	86,361,807 (-101, +99)
essv8671527	Submitted genomic		NC_000008.9:g.(863 61577_86361777)_(8 6361706_86361906)i ns129	NCBI36 (hg18)		NC_000008.9	Chr8	86,361,678 (-101, +99)	86,361,807 (-101, +99)
essv8671528	Submitted genomic		NC_000008.9:g.(863 61577_86361777)_(8 6361706_86361906)i ns129	NCBI36 (hg18)		NC_000008.9	Chr8	86,361,678 (-101, +99)	86,361,807 (-101, +99)
essv8671529	Submitted genomic		NC_000008.9:g.(863 61577_86361777)_(8 6361706_86361906)i ns129	NCBI36 (hg18)		NC_000008.9	Chr8	86,361,678 (-101, +99)	86,361,807 (-101, +99)

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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