A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7392n54



Internal ID22775287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241567093..241567855hg38UCSC Ensembl
chr2:242506508..242507270hg19UCSC Ensembl
chr2:242155181..242155943hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38763
hg19763
hg18763
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584965, nsv584964, nsv584963
Samples
Known GenesBOK
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7392n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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