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dbVar

Database of genomic structural variation

esv3377099

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:175

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: 62 SVs from 15 studies. See in: genome view

Remapped(Score: Perfect):30,461,438-30,461,814

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3377099	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	30,461,539 (-101, +99)	30,461,713 (-101, +101)
esv3377099	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	30,750,468 (-101, +99)	30,750,642 (-101, +101)
esv3377099	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000010.9	Chr10	30,790,474 (-101, +99)	30,790,648 (-101, +101)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv8947873	insertion	SAMN00797419	Sequencing	Paired-end mapping	10,938
essv8947874	insertion	SAMN00001633	Sequencing	Paired-end mapping	13,751
essv8947875	insertion	SAMN00001623	Sequencing	Paired-end mapping	10,870
essv8947876	insertion	SAMN00001662	Sequencing	Paired-end mapping	12,316

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv8947873	Remapped	Perfect	NC_000010.11:g.(30 461438_30461638)_( 30461612_30461814) ins3676	GRCh38.p12	First Pass	NC_000010.11	Chr10	30,461,539 (-101, +99)	30,461,713 (-101, +101)
essv8947874	Remapped	Perfect	NC_000010.11:g.(30 461438_30461638)_( 30461612_30461814) ins3676	GRCh38.p12	First Pass	NC_000010.11	Chr10	30,461,539 (-101, +99)	30,461,713 (-101, +101)
essv8947875	Remapped	Perfect	NC_000010.11:g.(30 461438_30461638)_( 30461612_30461814) ins3676	GRCh38.p12	First Pass	NC_000010.11	Chr10	30,461,539 (-101, +99)	30,461,713 (-101, +101)
essv8947876	Remapped	Perfect	NC_000010.11:g.(30 461438_30461638)_( 30461612_30461814) ins3676	GRCh38.p12	First Pass	NC_000010.11	Chr10	30,461,539 (-101, +99)	30,461,713 (-101, +101)
essv8947873	Remapped	Perfect	NC_000010.10:g.(30 750367_30750567)_( 30750541_30750743) ins3676	GRCh37.p13	First Pass	NC_000010.10	Chr10	30,750,468 (-101, +99)	30,750,642 (-101, +101)
essv8947874	Remapped	Perfect	NC_000010.10:g.(30 750367_30750567)_( 30750541_30750743) ins3676	GRCh37.p13	First Pass	NC_000010.10	Chr10	30,750,468 (-101, +99)	30,750,642 (-101, +101)
essv8947875	Remapped	Perfect	NC_000010.10:g.(30 750367_30750567)_( 30750541_30750743) ins3676	GRCh37.p13	First Pass	NC_000010.10	Chr10	30,750,468 (-101, +99)	30,750,642 (-101, +101)
essv8947876	Remapped	Perfect	NC_000010.10:g.(30 750367_30750567)_( 30750541_30750743) ins3676	GRCh37.p13	First Pass	NC_000010.10	Chr10	30,750,468 (-101, +99)	30,750,642 (-101, +101)
essv8947873	Submitted genomic		NC_000010.9:g.(307 90373_30790573)_(3 0790547_30790749)i ns3676	NCBI36 (hg18)		NC_000010.9	Chr10	30,790,474 (-101, +99)	30,790,648 (-101, +101)
essv8947874	Submitted genomic		NC_000010.9:g.(307 90373_30790573)_(3 0790547_30790749)i ns3676	NCBI36 (hg18)		NC_000010.9	Chr10	30,790,474 (-101, +99)	30,790,648 (-101, +101)
essv8947875	Submitted genomic		NC_000010.9:g.(307 90373_30790573)_(3 0790547_30790749)i ns3676	NCBI36 (hg18)		NC_000010.9	Chr10	30,790,474 (-101, +99)	30,790,648 (-101, +101)
essv8947876	Submitted genomic		NC_000010.9:g.(307 90373_30790573)_(3 0790547_30790749)i ns3676	NCBI36 (hg18)		NC_000010.9	Chr10	30,790,474 (-101, +99)	30,790,648 (-101, +101)

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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