A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7390n54



Internal ID20140814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241561247..241567855hg38UCSC Ensembl
chr2:242500662..242507270hg19UCSC Ensembl
chr2:242149335..242155943hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg386609
hg196609
hg186609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584958, nsv584959
Samples
Known GenesBOK
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7390n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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