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dbVar

Database of genomic structural variation

esv3693261

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:115,571

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

Remapped(Score: Perfect):68,338,756-68,454,326

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv3693261	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	68,338,756	68,454,326
esv3693261	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	66,005,993	66,121,563
esv3693261	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000018.8	Chr18	64,156,973	64,272,543

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Copy number	Other Calls in this Sample and Study
essv16508193	copy number loss	NA19100	SNP array	Probe signal intensity	Healthy individuals	1	21
essv16509077	copy number loss	NA19098	SNP array	Probe signal intensity	Healthy individuals	1	20

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv16508193	Remapped	Perfect	NC_000018.10:g.(?_ 68338756)_(6845432 6_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	68,338,756	68,454,326
essv16509077	Remapped	Perfect	NC_000018.10:g.(?_ 68338756)_(6845432 6_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	68,338,756	68,454,326
essv16508193	Remapped	Perfect	NC_000018.9:g.(?_6 6005993)_(66121563 _?)del	GRCh37.p13	First Pass	NC_000018.9	Chr18	66,005,993	66,121,563
essv16509077	Remapped	Perfect	NC_000018.9:g.(?_6 6005993)_(66121563 _?)del	GRCh37.p13	First Pass	NC_000018.9	Chr18	66,005,993	66,121,563
essv16508193	Submitted genomic		NC_000018.8:g.(?_6 4156973)_(64272543 _?)del	NCBI36 (hg18)		NC_000018.8	Chr18	64,156,973	64,272,543
essv16509077	Submitted genomic		NC_000018.8:g.(?_6 4156973)_(64272543 _?)del	NCBI36 (hg18)		NC_000018.8	Chr18	64,156,973	64,272,543

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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