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dbVar

Database of genomic structural variation

esv3692787

Organism: Homo sapiens

Study:estd221 (Palta et al. 2015)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:28,858

Publication(s):Palta et al. 2015

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: 202 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):68,847,964-68,876,821

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv3692787	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	68,847,964	68,876,821
esv3692787	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	68,897,115	68,925,972
esv3692787	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000003.10	Chr3	68,979,805	69,008,662

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Copy number	Other Calls in this Sample and Study
essv16507340	copy number gain	NA18914	SNP array	Probe signal intensity	Healthy individuals	3	21
essv16508992	copy number gain	NA18913	SNP array	Probe signal intensity	Healthy individuals	3	24

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv16507340	Remapped	Perfect	NC_000003.12:g.(?_ 68847964)_(6887682 1_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	68,847,964	68,876,821
essv16508992	Remapped	Perfect	NC_000003.12:g.(?_ 68855063)_(6887682 1_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	68,855,063	68,876,821
essv16507340	Remapped	Perfect	NC_000003.11:g.(?_ 68897115)_(6892597 2_?)dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	68,897,115	68,925,972
essv16508992	Remapped	Perfect	NC_000003.11:g.(?_ 68904214)_(6892597 2_?)dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	68,904,214	68,925,972
essv16507340	Submitted genomic		NC_000003.10:g.(?_ 68979805)_(6900866 2_?)dup	NCBI36 (hg18)		NC_000003.10	Chr3	68,979,805	69,008,662
essv16508992	Submitted genomic		NC_000003.10:g.(?_ 68986904)_(6900866 2_?)dup	NCBI36 (hg18)		NC_000003.10	Chr3	68,986,904	69,008,662

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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