A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760618



Internal ID10027980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230805072..230808662hg38UCSC Ensembl
Innerchr2:231669787..231673377hg19UCSC Ensembl
Innerchr2:231378031..231381621hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383591
hg193591
hg183591
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008682, essv7008681
SamplesRW_0585, RW_0069
Known GenesCAB39
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)esv2760618
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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