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dbVar

Database of genomic structural variation

esv3543130

Organism: Homo sapiens

Study:estd215 (GoNL)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:79,000

Publication(s):Boomsma et al. 2013

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: 770 SVs from 80 studies. See in: genome view

Remapped(Score: Perfect):16,087,492-16,166,491

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
esv3543130	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	16,087,492	16,089,433	16,165,726	16,166,491
esv3543130	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	15,945,001	15,946,942	16,023,235	16,024,000

Variant Call Information

Variant Call ID	Type	Method	Analysis
essv9741877	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv9741877	Remapped	Perfect	NC_000008.11:g.(16 087492_16089433)_( 16165726_16166491) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,087,492	16,089,433	16,165,726	16,166,491
essv9741877	Submitted genomic		NC_000008.10:g.(15 945001_15946942)_( 16023235_16024000) del78502	GRCh37 (hg19)		NC_000008.10	Chr8	15,945,001	15,946,942	16,023,235	16,024,000

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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