A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762913



Internal ID10377624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:148492114..148587918hg38UCSC Ensembl
Innerchr2:149249683..149345487hg19UCSC Ensembl
Innerchr2:148966153..149061957hg18UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3895805
hg1995805
hg1895805
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020078
SamplesSW_0569
Known GenesMBD5
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)esv2762913
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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