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dbVar

Database of genomic structural variation

estd226 (Zlotina et al. 2016)

Organism:: Human
Study Type:: Case-Set
Submitter:: Anna Zlotina
Description:: High-resolution molecular cytogenetic analysis of a patient with ring chromosome 18 syndrome combined with a severe congenital subaortic stenosis. See Variant Summary counts for estd226 in dbVar Variant Summary.
Publication(s):: Zlotina et al. 2016

Links

Source: NCBI

Detailed Information: Download 4 Variant Regions, Download 4 Variant Calls, Download Both, FTP

Variant Summary
Samplesets
Experimental Details
Validations

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Remapped: GRCh37.p13 (hg19)
Submitted: NCBI36 (hg18)

Variant Summary for:

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000018.10	Chr18	4	4	Remapped	NC_000018.10

Remapping summary:

			Variant Region remap status						Variant Call remap status
Sequence ID	Chr	Variant Regions on source	Perfect	Good	Pass	Fail	Mult	Variant Calls on source	Perfect	Good	Pass	Fail	Mult
NC_000018.8	Chr18	4	3	1	0	0	0	4	3	1	0	0	0

Samplesets

Number of Samplesets: 1

Description:: A patient with ring chromosome 18 syndrome combined with a severe congenitile subaortic stenosis
Size:: 1
Organisms:: Homo sapiens
Sampleset Phenotype(s):: None reported
Sex:: Male

Experimental Details

Experiment ID	Type	Method	Analysis	Platforms	Number of Variant Calls
1	Discovery	Oligo aCGH	Curated	Agilent SurePrint G3 Human CGH 8x60K	4
2	Validation	FISH	Curated	ToTelVysion Probe Kit (Abbott/Vysis)	2
3	Validation	qPCR	Curated	SYBR Green technology	1

Validations

Experiment ID	Method	Analysis	Platform	Number of Variant Calls Validated
2	FISH	Curated	ToTelVysion Probe Kit (Abbott/Vysis)	2
3	qPCR	Curated	SYBR Green technology	1

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