A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7181n54



Internal ID22775076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177978862..177982648hg38UCSC Ensembl
chr2:178843589..178847375hg19UCSC Ensembl
chr2:178551835..178555621hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg383787
hg193787
hg183787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv583708, nsv583710, nsv583711, nsv583706, nsv583709, nsv583707
Samples
Known GenesPDE11A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7181n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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