A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv54e55



Internal ID20126533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:132940895..133422481hg38UCSC Ensembl
chr11:132810790..133292376hg19UCSC Ensembl
chr11:132316000..132797586hg18UCSC Ensembl
chr11:132316000..132797586hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38481587
hg19481587
hg18481587
hg17481587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2750982, esv2750983
SamplesBEC_795, BEC_631
Known GenesOPCML
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv54e55
Frequency
Sample Size771
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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