A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995202



Internal ID10004945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:94735432..94789028hg38UCSC Ensembl
Innerchr10:96495189..96548785hg19UCSC Ensembl
Innerchr10:96485179..96538775hg18UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg3853597
hg1953597
hg1853597
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761617
Supporting Variants
SamplesSW_0007
Known GenesCYP2C18, CYP2C19
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)essv6995202
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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