A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv43e55



Internal ID22760993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18918775..18962848hg38UCSC Ensembl
chr11:18940322..18984395hg19UCSC Ensembl
chr11:18896898..18940971hg18UCSC Ensembl
chr11:18896898..18940971hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3844074
hg1944074
hg1844074
hg1744074
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2750996, esv2750999, esv2750998, esv2750997, esv2751020
SamplesBEC_299, BEC_402, BEC_11, BEC_389, BEC_726
Known GenesMRGPRX1
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)dgv43e55
Frequency
Sample Size771
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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