A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4740n100



Internal ID22790827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52985167..53005649hg38UCSC Ensembl
chr3:53019183..53039665hg19UCSC Ensembl
chr3:52994223..53014705hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3820483
hg1920483
hg1820483
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1009671, nsv1003254, nsv1003018, nsv1003328, nsv1004730, nsv1011388, nsv1014506, nsv1002983, nsv1004160, nsv1010511, nsv1004325, nsv1006561, nsv1011874, nsv1002820, nsv1007659, nsv1013928, nsv1003591, nsv1014099, nsv1004368, nsv1013733, nsv1003421, nsv1013774
Samples
Known GenesSFMBT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4740n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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