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dbVar

Database of genomic structural variation

esv3584557

Organism: Homo sapiens

Study:estd213 (Mokhtar et al. 2014)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:7,660

Publication(s):Mokhtar et al. 2014

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: 441 SVs from 69 studies. See in: genome view

Remapped(Score: Perfect):154,601,461-154,609,120

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv3584557	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	154,601,461	154,609,120
esv3584557	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	154,393,171	154,400,830
esv3584557	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000007.12	Chr7	154,024,104	154,031,763

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv9838139	copy number gain	OA074	SNP array	Probe signal intensity	24
essv9838140	copy number gain	KSF005	SNP array	Probe signal intensity	45

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv9838139	Remapped	Perfect	NC_000007.14:g.(?_ 154601461)_(154609 120_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	154,601,461	154,609,120
essv9838140	Remapped	Perfect	NC_000007.14:g.(?_ 154601461)_(154609 120_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	154,601,461	154,609,120
essv9838139	Remapped	Perfect	NC_000007.13:g.(?_ 154393171)_(154400 830_?)dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	154,393,171	154,400,830
essv9838140	Remapped	Perfect	NC_000007.13:g.(?_ 154393171)_(154400 830_?)dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	154,393,171	154,400,830
essv9838139	Submitted genomic		NC_000007.12:g.(?_ 154024104)_(154031 763_?)dup	NCBI36 (hg18)		NC_000007.12	Chr7	154,024,104	154,031,763
essv9838140	Submitted genomic		NC_000007.12:g.(?_ 154024104)_(154031 763_?)dup	NCBI36 (hg18)		NC_000007.12	Chr7	154,024,104	154,031,763

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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