A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4750n100



Internal ID22790837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:60082140..60299153hg38UCSC Ensembl
chr3:60067866..60284882hg19UCSC Ensembl
chr3:60042906..60259922hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38217014
hg19217017
hg18217017
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1008267, nsv1013919, nsv1007798, nsv1009063
Samples
Known GenesFHIT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4750n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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