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dbVar

Database of genomic structural variation

esv3693266

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:35,552

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: 508 SVs from 68 studies. See in: genome view

Remapped(Score: Perfect):15,684,222-15,719,773

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv3693266	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	15,684,222	15,719,773
esv3693266	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	15,795,032	15,830,583
esv3693266	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000019.8	Chr19	15,656,032	15,691,583

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Copy number	Other Calls in this Sample and Study
essv16507572	copy number gain	NA18523	SNP array	Probe signal intensity	Healthy individuals	3	29
essv16509142	copy number gain	NA18505	SNP array	Probe signal intensity	Healthy individuals	3	34

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv16507572	Remapped	Perfect	NC_000019.10:g.(?_ 15684222)_(1571855 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	15,684,222	15,718,554
essv16509142	Remapped	Perfect	NC_000019.10:g.(?_ 15684222)_(1571977 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	15,684,222	15,719,773
essv16507572	Remapped	Perfect	NC_000019.9:g.(?_1 5795032)_(15829364 _?)dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	15,795,032	15,829,364
essv16509142	Remapped	Perfect	NC_000019.9:g.(?_1 5795032)_(15830583 _?)dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	15,795,032	15,830,583
essv16507572	Submitted genomic		NC_000019.8:g.(?_1 5656032)_(15690364 _?)dup	NCBI36 (hg18)		NC_000019.8	Chr19	15,656,032	15,690,364
essv16509142	Submitted genomic		NC_000019.8:g.(?_1 5656032)_(15691583 _?)dup	NCBI36 (hg18)		NC_000019.8	Chr19	15,656,032	15,691,583

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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