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dbVar

Database of genomic structural variation

esv3563982

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:82,623

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: 428 SVs from 72 studies. See in: genome view

Remapped(Score: Perfect):72,545,318-72,627,940

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
esv3563982	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	72,545,318	72,546,802	72,627,091	72,627,940
esv3563982	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	73,011,001	73,012,485	73,092,774	73,093,623

Variant Call Information

Variant Call ID	Type	Method	Analysis
essv9762729	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
essv9762729	Remapped	Perfect	NC_000001.11:g.(72 545318_72546802)_( 72627091_72627940) del	GRCh38.p12	First Pass	NC_000001.11	Chr1	72,545,318	72,546,802	72,627,091	72,627,940
essv9762729	Submitted genomic		NC_000001.10:g.(73 011001_73012485)_( 73092774_73093623) del81985	GRCh37 (hg19)		NC_000001.10	Chr1	73,011,001	73,012,485	73,092,774	73,093,623

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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