A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7008673



Internal ID10333110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229453765..229462927hg38UCSC Ensembl
Innerchr2:230318481..230327643hg19UCSC Ensembl
Innerchr2:230026725..230035887hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg389163
hg199163
hg189163
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760575
Supporting Variants
SamplesRW_0038
Known GenesDNER
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)essv7008673
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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