A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv180e55



Internal ID22761130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:75342927..75590759hg38UCSC Ensembl
chr3:75392078..75639910hg19UCSC Ensembl
chr3:75474768..75722600hg18UCSC Ensembl
chr3:75474768..75722600hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38247833
hg19247833
hg18247833
hg17247833
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv35065, esv2752016
SamplesNA12864, BEC_496
Known GenesFAM86DP
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)dgv180e55
Frequency
Sample Size771
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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