A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1292n100



Internal ID20152908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125204544..125218592hg38UCSC Ensembl
chr11:125074440..125088488hg19UCSC Ensembl
chr11:124579650..124593698hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3814049
hg1914049
hg1814049
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1041205, nsv1053306, nsv1047873, nsv1048378, nsv1036943, nsv1048194
Samples
Known GenesPKNOX2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1292n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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