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dbVar

Database of genomic structural variation

esv3693090

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:50,636

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: 253 SVs from 48 studies. See in: genome view

Remapped(Score: Perfect):13,994,007-14,044,642

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv3693090	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	13,994,007	14,044,642
esv3693090	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	14,320,502	14,371,137
esv3693090	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	14,193,089	14,243,724

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Copy number	Other Calls in this Sample and Study
essv16509155	copy number gain	NA18861	SNP array	Probe signal intensity	Healthy individuals	3	28
essv16507970	copy number gain	NA18863	SNP array	Probe signal intensity	Healthy individuals	3	28

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv16509155	Remapped	Perfect	NC_000001.11:g.(?_ 13994007)_(1402781 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	13,994,007	14,027,816
essv16507970	Remapped	Perfect	NC_000001.11:g.(?_ 13995624)_(1404464 2_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	13,995,624	14,044,642
essv16509155	Remapped	Perfect	NC_000001.10:g.(?_ 14320502)_(1435431 1_?)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	14,320,502	14,354,311
essv16507970	Remapped	Perfect	NC_000001.10:g.(?_ 14322119)_(1437113 7_?)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	14,322,119	14,371,137
essv16509155	Submitted genomic		NC_000001.9:g.(?_1 4193089)_(14226898 _?)dup	NCBI36 (hg18)		NC_000001.9	Chr1	14,193,089	14,226,898
essv16507970	Submitted genomic		NC_000001.9:g.(?_1 4194706)_(14243724 _?)dup	NCBI36 (hg18)		NC_000001.9	Chr1	14,194,706	14,243,724

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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