A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7353n54



Internal ID22775248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239400274..239401369hg38UCSC Ensembl
chr2:240321968..240323063hg19UCSC Ensembl
chr2:239986905..239988000hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381096
hg191096
hg181096
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584783, nsv584782
Samples
Known GenesHDAC4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7353n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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