A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv94n21



Internal ID18990567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47725779..47821397hg38UCSC Ensembl
chr12:48119562..48215180hg19UCSC Ensembl
chr12:46405829..46501447hg18UCSC Ensembl
chr12:46405829..46501447hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3895619
hg1995619
hg1895619
hg1795619
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv524967, nsv527470
Samples
Known GenesHDAC7, RAPGEF3, SLC48A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)dgv94n21
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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