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dbVar

Database of genomic structural variation

esv3559112

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:59,394

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: 482 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):94,775,502-94,834,895

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
esv3559112	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	94,775,502	94,778,425	94,830,403	94,834,895
esv3559112	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	94,030,501	94,033,424	94,085,402	94,089,894

Variant Call Information

Variant Call ID	Type	Method	Analysis
essv9757859	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
essv9757859	Remapped	Perfect	NC_000023.11:g.(94 775502_94778425)_( 94830403_94834895) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	94,775,502	94,778,425	94,830,403	94,834,895
essv9757859	Submitted genomic		NC_000023.10:g.(94 030501_94033424)_( 94085402_94089894) del54783	GRCh37 (hg19)		NC_000023.10	ChrX	94,030,501	94,033,424	94,085,402	94,089,894

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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